Canonical Allele Identifier: PA2827787473
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68579
ClinVar RCV Id: RCV000059455 RCV000636408 RCV000188842
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Ile227Ser
CA285045
NM_001353960.2:c.680T>G