Canonical Allele Identifier: PA2827788484
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68607
ClinVar RCV Id: RCV000059484 RCV001387943
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Cys930Arg
CA285105
NM_001353960.2:c.2788T>C