Canonical Allele Identifier: PA2828361470
Gene: SCN8A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Ile1715Ser
CA384885081
NM_001369788.1:c.5144T>G