Canonical Allele Identifier: PA2827292806
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207132
ClinVar RCV Id: RCV000189290 RCV002517898 RCV003992222
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Arg1872Leu
CA318301
NM_001330260.2:c.5615G>T