Canonical Allele Identifier: PA2827764192
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 375511
ClinVar RCV Id: RCV000417000
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Glu616Asp
CA16044314
NM_001353950.2:c.1848G>C
CA349067460
NM_001353950.2:c.1848G>T