ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827250965
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
179760
ClinVar RCV Id:
RCV000156558
RCV000471315
RCV000680347
RCV001803094
RCV002399558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311265.1:p.Ser57Phe
CA185080
NM_001324336.2:c.170C>T