ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828235354
Gene: ESPN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
228670
ClinVar RCV Id:
RCV000217424
RCV001853451
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354402.1:p.Arg113Cys
CA559861
NM_001367473.1:c.337C>T