Canonical Allele Identifier: PA2827752682
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 461265
ClinVar RCV Id: RCV000540121
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Trp1219Arg
CA349055964
NM_001353948.2:c.3655T>C
CA349055968
NM_001353948.2:c.3655T>A