Canonical Allele Identifier: PA2827761025
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 932443
ClinVar RCV Id: RCV001200253

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Met1653Leu
CA349069845
NM_001353949.2:c.4957A>T
CA349069850
NM_001353949.2:c.4957A>C