Canonical Allele Identifier: PA2827788044
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 220200
ClinVar RCV Id: RCV000204396 RCV001753614 RCV002517377
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Arg617Cys
CA348628
NM_001353960.2:c.1849C>T