Canonical Allele Identifier: PA2827775336
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1391311
ClinVar RCV Id: RCV001893008

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Pro82Leu
CA349242671
NM_001353954.2:c.245C>T