ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825208193
Gene: KCNJ11
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003991233
ClinVar Variation:
3066229
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Ile261Thr
CA379770793
NM_000525.4:c.782T>C