Canonical Allele Identifier: PA2827770411
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1792336
ClinVar RCV Id: RCV002431152 RCV003389908
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Asp825Glu
CA349062579
NM_001353951.2:c.2475C>G
CA349062580
NM_001353951.2:c.2475C>A