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: PA645422055

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 373592

ClinVar RCV Id: RCV000414168

ClinVar Variation Id: 975979

ClinVar RCV Id: RCV001253133 RCV002265966

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Gly256Arg	CA16043227 NM_172107.3:c.766G>C CA409653493 NM_172107.3:c.766G>A