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: PA645422275

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369770

ClinVar RCV Id: RCV000416958 RCV000678149 RCV001037300 RCV001702362 RCV003225064

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742105.1:p.Gly301Ser	CA10654809 NM_172107.3:c.901G>A