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: PA2830347097

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 194446

ClinVar RCV Id: RCV000765493 RCV000724023 RCV000781975 RCV001240137 RCV001527628 RCV002317007 RCV003315309

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742106.1:p.Val512Met	CA240402 NM_172108.3:c.1534G>A