Canonical Allele Identifier: PA1139740608
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 849526
ClinVar RCV Id: RCV001053513

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Leu1930Pro
CA349063858
NM_001353948.2:c.5789T>C