Canonical Allele Identifier: PA2827774986
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2846763
ClinVar RCV Id: RCV003754652

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Asp1805Glu
CA349067509
NM_001353952.2:c.5415T>G
CA349067511
NM_001353952.2:c.5415T>A