ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828710667
Gene: KCNJ11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002227394
ClinVar Variation:
1679515
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364226.1:p.Leu146Ile
CA379771412
NM_001377297.1:c.436C>A