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: PA2830344398

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1744320

ClinVar RCV Id: RCV003096540 RCV002342721

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Arg165Gln	CA9958808 NM_172106.3:c.494G>A