Canonical Allele Identifier: PA2826130762
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1067137
ClinVar RCV Id: RCV001378321
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Arg1825_Gln1826insArgGluLeuAspIleLeuArg
CA2499221741
NM_001177984.2:c.5456_5476dup