Canonical Allele Identifier: PA2827786173
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2833642
ClinVar RCV Id: RCV003754473
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Gly1391Arg
CA349049919
NM_001353958.2:c.4171G>C
CA349049920
NM_001353958.2:c.4171G>A