Canonical Allele Identifier: PA2827776111
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68589
ClinVar RCV Id: RCV000059465 RCV000079561 RCV000259883 RCV000434909 RCV000355074 RCV001087094 RCV001132420 RCV002311541 RCV004537266
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Arg603His
CA285063
NM_001353954.2:c.1808G>A