ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828710707
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000671725
RCV002226732
ClinVar Variation:
555827
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364226.1:p.Leu194del
CA658822452
NM_001377297.1:c.580_582del