ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825367222
Gene: PRKAG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3073664
ClinVar RCV Id:
RCV004016670
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035723.1:p.Tyr179His
CA370186873
NM_001040633.2:c.535T>C