ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580127349
Gene: KCNJ11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002508583
ClinVar Variation:
1810027
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Ala346Val
CA379769374
NM_000525.4:c.1037C>T