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.[Val1671del;Ile1673_Asn1684del;Met1686_Gly1697del;Gly1700Arg]
CA2586970329
ENST00000409050.1:c.5008_5011dup