Canonical Allele Identifier: PA891861972
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 580287
ClinVar RCV Id: RCV000703775

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001159435.1:p.Asn999Lys
CA349060463
NM_001165963.4:c.2997C>G
CA349060465
NM_001165963.4:c.2997C>A