Canonical Allele Identifier: PA2829675614
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 521780
ClinVar RCV Id: RCV000624256 RCV001543134 RCV002510935
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Pro1166Arg
CA1942938
NM_006920.6:c.3497C>G