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
ENSP00000490288.1:p.Val250Leu
CA349073620
ENST00000636194.1:c.748G>C
CA349073622
ENST00000636194.1:c.748G>T