Canonical Allele Identifier: PA2827291844
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1176943
ClinVar RCV Id: RCV001532693
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Ala1046Asp
CA384892646
NM_001330260.2:c.3137C>A