Canonical Allele Identifier: PA2827779648
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 580287
ClinVar RCV Id: RCV000703775
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Asn987Lys
CA349060463
NM_001353955.2:c.2961C>G
CA349060465
NM_001353955.2:c.2961C>A