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: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000487583.2:p.Glu513Asp
CA385229027
ENST00000627620.5:c.1539G>C
CA385229028
ENST00000627620.5:c.1539G>T