Canonical Allele Identifier: PA1139723087
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 833731
ClinVar RCV Id: RCV001034217

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Pro720Leu
CA6571449
NM_014191.4:c.2159C>T