ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827251366
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
181527
ClinVar RCV Id:
RCV000466484
RCV000763645
RCV002262761
RCV002336368
RCV001813417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311266.1:p.Ile119Val
CA297175
NM_001324337.2:c.355A>G