Canonical Allele Identifier: PA2828361440
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1493156
ClinVar RCV Id: RCV001984155
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Leu1671del
CA2580615202
NM_001369788.1:c.5012_5014del