Canonical Allele Identifier: PA2826130218
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1208608
ClinVar RCV Id: RCV001576995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Ser1117Leu
CA6571580
NM_001177984.2:c.3350C>T