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: PA2830347631

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3069190

ClinVar RCV Id: RCV004006247

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Lys255Gln	CA409653506 NM_172109.3:c.763A>C