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.[Gly1281_Lys1284delinsGluPro;Leu1286_Thr1288delinsAsn;Arg1290_Leu1298del;Arg1300_Glu1302del;Met1304_Ala1310delinsHis]
CA2586965076
NM_001353960.2:c.3842del