Canonical Allele Identifier: PA2827765392
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 194617
ClinVar RCV Id: RCV000462390 RCV000585632
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.His1009Gln
CA240694
NM_001353950.2:c.3027C>A
CA349060180
NM_001353950.2:c.3027C>G