Canonical Allele Identifier: PA2580229733
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2153965
ClinVar RCV Id: RCV003069036

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Leu485Ser
CA1942866
NM_001353961.2:c.1454T>C