Canonical Allele Identifier: PA2827768182
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1205475
ClinVar RCV Id: RCV001572148

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Met1796Ile
CA349067667
NM_001353950.2:c.5388G>T
CA349067669
NM_001353950.2:c.5388G>C
CA349067671
NM_001353950.2:c.5388G>A