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
ENSP00000386312.1:p.His992Gln
CA240694
ENST00000409050.1:c.2976C>A
CA349060180
ENST00000409050.1:c.2976C>G