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
NP_001340889.1:p.[Thr1271_Arg1287delinsGlnGlnMetProTrpVal;Leu1289_Ala1291delinsGlnAsn;Arg1293Glu;Leu1295_Ala1297delinsSerAsn;Arg1300delinsGlyHis]
CA16042392
NM_001353960.2:c.3811del