ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827251347
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2450868
ClinVar RCV Id:
RCV003177264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311266.1:p.Cys97Phe
CA378383628
NM_001324337.2:c.290G>T