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: PA915989844

Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 8680

ClinVar RCV Id: RCV000009217 RCV000020353 RCV002227029

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159762.1:p.Ile80Leu	CA119835 NM_001166290.2:c.238A>C