Canonical Allele Identifier: PA2827763399
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 944531
ClinVar RCV Id: RCV001214948

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Met350Thr
CA349071412
NM_001353950.2:c.1049T>C