ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826030176
Gene: KCNJ11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000712162
ClinVar Variation:
586106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001159762.1:p.Tyr243Phe
CA379769506
NM_001166290.2:c.728A>T