ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830003481
Gene: PRKAG2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077747.1:p.Asp250His
CA013810
NM_024429.2:c.748G>C