Canonical Allele Identifier: PA2826130592
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 421047
ClinVar RCV Id: RCV000485665 RCV004555864
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Arg1597His
CA16619564
NM_001177984.2:c.4790G>A