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: PA2827783930

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 859283

ClinVar RCV Id: RCV001065356

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Phe1787Ser	CA349067529 NM_001353957.2:c.5360T>C