ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828710467
Gene: KCNJ11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000673987
RCV002226736
ClinVar Variation:
557803
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001364225.1:p.Pro179Leu
CA379770647
NM_001377296.1:c.536C>T