ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA096115
Gene: EPAS1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000006843
ClinVar Variation:
6470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001421.2:p.Met535Val
CA118292
NM_001430.5:c.1603A>G