Canonical Allele Identifier: PA2741942424
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2792024
ClinVar RCV Id: RCV003753521
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Leu483Val
CA385228817
NM_014191.4:c.1447C>G