Canonical Allele Identifier: PA2741942947
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2824619
ClinVar RCV Id: RCV003754342

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Thr1639Ser
CA384880506
NM_014191.4:c.4915A>T
CA384880508
NM_014191.4:c.4916C>G