Canonical Allele Identifier: PA1139723492
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 957489
ClinVar RCV Id: RCV001230475

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Asn1043Lys
CA6571548
NM_014191.4:c.3129C>G
CA384892591
NM_014191.4:c.3129C>A