Canonical Allele Identifier: PA645449310
Gene: SCN8A HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Val1315Leu
CA384904256
NM_014191.4:c.3943G>T
CA384904263
NM_014191.4:c.3943G>C