ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827251032
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1502464
ClinVar RCV Id:
RCV002010992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311265.1:p.Lys169Arg
CA378385738
NM_001324336.2:c.506A>G