Canonical Allele Identifier: PA2827760993
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12886
ClinVar RCV Id: RCV000013746 RCV000059433 RCV003992151 RCV001385324
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Ile1645Met
CA256596
NM_001353949.2:c.4935C>G