Canonical Allele Identifier: PA2827778557
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 375512
ClinVar RCV Id: RCV000416974
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Ser228Pro
CA16044315
NM_001353955.2:c.682T>C