ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741959047
Gene: PRKAG2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057287.2:p.Ile430Arg
CA370071094
NM_016203.4:c.1289T>G