ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827251399
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2421102
ClinVar RCV Id:
RCV003112762
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311266.1:p.Val188Met
CA378386040
NM_001324337.2:c.562G>A