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: PA2830345765

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 945463

ClinVar RCV Id: RCV001216111

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Gly256Val	CA409653487 NM_172107.3:c.767G>T