Canonical Allele Identifier: PA2827785926
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 593636
ClinVar RCV Id: RCV000728735

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Tyr1246Cys
CA349054188
NM_001353958.2:c.3737A>G