ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826030049
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
552480
ClinVar RCV Id:
RCV000667748
RCV002271555
RCV002493095
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159762.1:p.Arg105His
CA5902279
NM_001166290.2:c.314G>A