Canonical Allele Identifier: PA2827754492
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189845
ClinVar RCV Id: RCV000180799

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Pro1668Arg
CA303095
NM_001353948.2:c.5003C>G