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: PA2830345037

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2433027

ClinVar RCV Id: RCV003133812 RCV004538900

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Arg523Lys	CA409645150 NM_172106.3:c.1568G>A