Canonical Allele Identifier: PA2826259654
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 3067157
ClinVar RCV Id: RCV003992846

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Met1267Ile
CA349054289
NM_001202435.3:c.3801G>T
CA349054291
NM_001202435.3:c.3801G>C
CA349054293
NM_001202435.3:c.3801G>A