Canonical Allele Identifier: PA2827773329
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 372741
ClinVar RCV Id: RCV000413156 RCV003992286 RCV003588626
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Glu777Lys
CA16042443
NM_001353952.2:c.2329G>A