ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826507223
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_001255968.1:p.Arg200Cys
CA378386235
NM_001269039.3:c.598C>T