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: PA342503

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21784

ClinVar RCV Id: RCV000678075

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Ser105del	CA342502 NM_172107.3:c.314_316del