This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000490780.1:p.Tyr1758del
CA349068200
ENST00000637988.1:c.5274C>G
CA349068201
ENST00000637988.1:c.5274C>A