ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741816366
Gene: KCNJ11
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2725519
ClinVar RCV Id:
RCV003554606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000516.3:p.Glu282Gln
CA379770329
NM_000525.4:c.844G>C