Allele Registry

Canonical Allele Identifier: PA096094

Gene: EPAS1 HGNC NCBI

ClinVar RCV:

RCV000006842

RCV001532400

ClinVar Variation:

6469

HGVS (amino-acid)	Matching Registered Transcripts
NP_001421.2:p.Gly537Arg	CA118291 NM_001430.5:c.1609G>A CA346704496 NM_001430.5:c.1609G>C