ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828710757
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
447637
ClinVar RCV Id:
RCV000517615
RCV000766859
RCV002226714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364226.1:p.Ser240Tyr
CA379769545
NM_001377297.1:c.719C>A