ClinGen Allele Registry
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Canonical Allele Identifier:
PA172341
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000146115
RCV000170299
RCV001288659
RCV001329964
RCV002051813
RCV002227076
ClinVar Variation:
158682
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Glu227Lys
CA172340
NM_000525.4:c.679G>A