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: PA916062704

Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369783

ClinVar RCV Id: RCV000678164

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_742107.1:p.Ser358Phe