Canonical Allele Identifier: PA2827780098
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189952
ClinVar RCV Id: RCV000180905

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Ala1327Val
CA303389
NM_001353955.2:c.3980C>T