ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828710742
Gene: KCNJ11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001336920
RCV002226778
RCV002493733
ClinVar Variation:
1034248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364226.1:p.Arg227His
CA5902214
NM_001377297.1:c.680G>A