Canonical Allele Identifier: PA916036750
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68628
ClinVar RCV Id: RCV000059506 RCV001381481 RCV001719807 RCV003989315
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340890.1:p.Val552Ile
CA266114
NM_001353961.2:c.1654G>A