Allele Registry

Canonical Allele Identifier: PA2580256050

Gene: EPAS1 HGNC NCBI

ClinVar RCV:

RCV002330758

ClinVar Variation:

1743349

HGVS (amino-acid)	Matching Registered Transcripts
NP_001421.2:p.Asp161His	CA346699016 NM_001430.5:c.481G>C