Canonical Allele Identifier: PA2827779126
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2801129
ClinVar RCV Id: RCV003753978

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Arg617Ser
CA349067449
NM_001353955.2:c.1849C>A