ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580369058
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1749638
ClinVar RCV Id:
RCV002359746
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031399.2:p.Ser193Cys
CA378386141
NM_007373.4:c.578C>G