Canonical Allele Identifier: PA2580370300
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2083146
ClinVar RCV Id: RCV003009043

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Phe300Leu
CA385226776
NM_014191.4:c.898T>C
CA385226781
NM_014191.4:c.900T>A
CA385226782
NM_014191.4:c.900T>G