Canonical Allele Identifier: PA2827757532
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 374331
ClinVar RCV Id: RCV000415450 RCV001584109 RCV001861452 RCV002402109
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Ser570Asn
CA16043652
NM_001353949.2:c.1709G>A