ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825367496
Gene: PRKAG2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000038962
ClinVar Variation:
45739
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035723.1:p.Phe279Ile
CA014681
NM_001040633.2:c.835T>A