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: PA645405063

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 373157

ClinVar RCV Id: RCV000412769 RCV001861426

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001159435.1:p.Gly1749Arg