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: PA2830344416

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 427046

ClinVar RCV Id: RCV000489646 RCV001340746

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Val182Met	CA409654914 NM_172106.3:c.544G>A