Canonical Allele Identifier: PA2828361465
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1163054
ClinVar RCV Id: RCV001507800 RCV004528502
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Phe1705del
CA605238641
NM_001369788.1:c.5112_5114del