ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827251338
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1011324
ClinVar RCV Id:
RCV001309095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311266.1:p.Thr81Ile
CA378382915
NM_001324337.2:c.242C>T