Canonical Allele Identifier: PA2827292541
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207126
ClinVar RCV Id: RCV000189284 RCV002517015
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Met1646Leu
CA318290
NM_001330260.2:c.4936A>T
CA384880586
NM_001330260.2:c.4936A>C