Canonical Allele Identifier: PA2827292659
Gene: SCN8A HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Ile1762Leu
CA384885184
NM_001330260.2:c.5284A>C