Canonical Allele Identifier: PA2827774567
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 448255
ClinVar RCV Id: RCV000518137 RCV000690853 RCV002289705
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Arg1585His
CA1942737
NM_001353952.2:c.4754G>A