ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825366735
Gene: PRKAG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2749962
ClinVar RCV Id:
RCV003506974
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035723.1:p.Pro44Leu
CA370069797
NM_001040633.2:c.131C>T