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.Met998Leu
CA349060345
ENST00000637988.1:c.2992A>T
CA349060348
ENST00000637988.1:c.2992A>C