ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827251238
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
139110
ClinVar RCV Id:
RCV000128044
RCV000290434
RCV000476332
RCV001813391
RCV002399504
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311265.1:p.Ser532Gly
CA293486
NM_001324336.2:c.1594A>G