Canonical Allele Identifier: PA2826130794
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 839506
ClinVar RCV Id: RCV001041278

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Lys1839Asn
CA384888264
NM_001177984.2:c.5517A>C
CA384888267
NM_001177984.2:c.5517A>T