Canonical Allele Identifier: PA2827771275
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2061575
ClinVar RCV Id: RCV002942835

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Phe1404Leu
CA349049943
NM_001353951.2:c.4212T>G
CA349049944
NM_001353951.2:c.4212T>A
CA349049949
NM_001353951.2:c.4210T>C