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: PA2826011096

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1438229

ClinVar RCV Id: RCV001934229

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Glu1810Lys	CA349067630 NM_001165963.4:c.5428G>A