Canonical Allele Identifier: PA2827779121
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 375511
ClinVar RCV Id: RCV000417000

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Glu615Asp
CA16044314
NM_001353955.2:c.1845G>C
CA349067460
NM_001353955.2:c.1845G>T