Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2826030073

Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 556784

ClinVar RCV Id: RCV000672836 RCV001868266 RCV002227204 RCV002493114 RCV002532135

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159762.1:p.Arg134His	CA5902266 NM_001166290.2:c.401G>A