Canonical Allele Identifier: PA2827778790
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 372950
ClinVar RCV Id: RCV000414158
ClinVar Variation Id: 593630
ClinVar RCV Id: RCV000728727

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Ser364Arg
CA1943364
NM_001353955.2:c.1092C>A
CA16042445
NM_001353955.2:c.1090A>C
CA349071265
NM_001353955.2:c.1092C>G