Canonical Allele Identifier: PA2741942661
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2578319
ClinVar RCV Id: RCV003325918

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Asp989Glu
CA6571533
NM_014191.4:c.2967T>A
CA384891950
NM_014191.4:c.2967T>G