Canonical Allele Identifier: PA096097
Gene: EPAS1 HGNC NCBI
ClinVar RCV:
RCV000006841
ClinVar Variation:
6468
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001421.2:p.Gly537Trp
CA118290
NM_001430.5:c.1609G>T