Canonical Allele Identifier: PA2827784553
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 530428
ClinVar RCV Id: RCV000636289

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Met251Arg
CA349073597
NM_001353958.2:c.752T>G