Canonical Allele Identifier: PA2829675781
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 461267
ClinVar RCV Id: RCV000556885

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Ala1290Val
CA349053415
NM_006920.6:c.3869C>T