Canonical Allele Identifier: PA2827758799
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 206795
ClinVar RCV Id: RCV000188907 RCV001509553 RCV002514043 RCV003448283
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Asp987Glu
CA317343
NM_001353949.2:c.2961C>A
CA349060479
NM_001353949.2:c.2961C>G