ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA116852
Gene: ESPN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4422
ClinVar RCV Id:
RCV000004672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113663.2:p.Arg774Gln
CA116851
NM_031475.3:c.2321G>A