ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580369063
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2183242
ClinVar RCV Id:
RCV002615415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031399.2:p.Gln229Lys
CA5689609
NM_007373.4:c.685C>A