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: PA2826013790

Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2633676

ClinVar RCV Id: RCV004531643

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Phe1664Cys	CA349069365 NM_001165964.3:c.4991T>G