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: PA2830344595

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2500050

ClinVar RCV Id: RCV003224697

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742104.1:p.Asn258Ile	CA409653466 NM_172106.3:c.773A>T