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: PA916062449

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369758

ClinVar RCV Id: RCV000678135

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_742107.1:p.Thr217Asn	CA10654821 NM_172109.3:c.650C>A