Canonical Allele Identifier: PA2827750254
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 946237
ClinVar RCV Id: RCV001217060
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Val352Met
CA1943371
NM_001353948.2:c.1054G>A