Canonical Allele Identifier: PA2827754135
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68636

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Arg1575Cys
CA219777
NM_001353948.2:c.4723C>T