Canonical Allele Identifier: PA2827774117
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68535
ClinVar RCV Id: RCV000059408 RCV001202491 RCV003352765
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Val1324Met
CA284934
NM_001353952.2:c.3970G>A