Canonical Allele Identifier: PA1139724569
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 836602
ClinVar RCV Id: RCV001037773
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Ala1899Val
CA384888656
NM_014191.4:c.5696C>T