Canonical Allele Identifier: PA2580256053
Gene: EPAS1 HGNC NCBI
ClinVar RCV:
RCV003173300
ClinVar Variation:
2456328
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001421.2:p.Asp161Asn
CA1644664
NM_001430.5:c.481G>A