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: PA658814232

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 530434

ClinVar RCV Id: RCV000636298 RCV001771861

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Arg497His	CA9958448 NM_172107.3:c.1490G>A