Canonical Allele Identifier: PA2829675435
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_008851.3:p.Asn988Lys
CA349060463
NM_006920.6:c.2964C>G
CA349060465
NM_006920.6:c.2964C>A