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: PA2830345942

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1308969

ClinVar RCV Id: RCV001754857

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Ala381Asp	CA409650644 NM_172107.3:c.1142C>A