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: PA2830347094

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2695415

ClinVar RCV Id: RCV003589503

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Ala511Thr	CA409645141 NM_172108.3:c.1531G>A