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: PA2580127288

Gene: KCNJ11 HGNC NCBI

Linked Data

ClinVar Variation Id: 2146733

ClinVar RCV Id: RCV003067279

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000516.3:p.Lys222Gln	CA5902265 NM_000525.4:c.664A>C