ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426174
Gene: EPAS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
336261
ClinVar RCV Id:
RCV000879788
RCV000986629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001421.2:p.Phe374Tyr
CA1644891
NM_001430.5:c.1121T>A