Canonical Allele Identifier: PA2827774535
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68636
ClinVar RCV Id: RCV000059515 RCV000986874 RCV001513378
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Arg1564Cys
CA219777
NM_001353952.2:c.4690C>T