ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827251045
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
830079
ClinVar RCV Id:
RCV001030085
RCV001772201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311265.1:p.Tyr189Phe
CA378386067
NM_001324336.2:c.566A>T