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.[Val995_Tyr1003del;Phe1005_Ile1016del;Asp1018_Asp1024delinsMet]
CA2580064337
ENST00000409050.1:c.2984del