Canonical Allele Identifier: PA2827786580
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68642
ClinVar RCV Id: RCV000059522 RCV001171717 RCV001711166 RCV003588573 RCV003992175
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Arg1629Cys
CA266117
NM_001353958.2:c.4885C>T