Canonical Allele Identifier: PA2827291835
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 957489
ClinVar RCV Id: RCV001230475
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Asn1043Lys
CA6571548
NM_001330260.2:c.3129C>G
CA384892591
NM_001330260.2:c.3129C>A