ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827251412
Gene: SHOC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2431919
ClinVar RCV Id:
RCV003142502
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311266.1:p.Arg200Cys
CA378386235
NM_001324337.2:c.598C>T