Canonical Allele Identifier: PA2827771050
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2815332
ClinVar RCV Id: RCV003754210
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.Trp1273Cys
CA349053977
NM_001353951.2:c.3819G>T
CA349053979
NM_001353951.2:c.3819G>C