Canonical Allele Identifier: PA2573256270
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_055006.1:p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg
CA2499221741
NM_014191.4:c.5579_5599dup