Canonical Allele Identifier: PA303217
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189888
ClinVar RCV Id: RCV000180840

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Met379Lys
CA303214
NM_006920.6:c.1136T>A