Canonical Allele Identifier: PA303450
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189971
ClinVar RCV Id: RCV000180925

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Tyr816Asp
CA303448
NM_006920.6:c.2446T>G