Hoopoe
Senior Member (Voting Rights)
Sequence Variant Nomenclature
This website clearly explains what codes like NG_012232.1(NM_004006.2):c.93+1G>T and p.Trp24Cys mean.
Ensembl
This website has good tools, such as a variant effect predictor. It's more for those with a (bio)informatics background.
ClinVar
A public archive of the relationships between gene variants and diseases, with supporting evidence.
OMIM
An online catalog of human genes and genetic disorders.
This website clearly explains what codes like NG_012232.1(NM_004006.2):c.93+1G>T and p.Trp24Cys mean.
Ensembl
This website has good tools, such as a variant effect predictor. It's more for those with a (bio)informatics background.
ClinVar
A public archive of the relationships between gene variants and diseases, with supporting evidence.
OMIM
An online catalog of human genes and genetic disorders.
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