ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826507177
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1339463
ClinVar RCV Id:
RCV002274220
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001255968.1:p.Leu174Phe
CA378385814
NM_001269039.3:c.520C>T