Canonical Allele Identifier: PA318324
Gene: SCN8A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Met1573Ile
CA318323
NM_014191.4:c.4719G>A
CA384879211
NM_014191.4:c.4719G>C
CA384879212
NM_014191.4:c.4719G>T