Canonical Allele Identifier: PA2827781212
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1306292
ClinVar RCV Id: RCV001767245
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Lys1995Asn
CA349062884
NM_001353955.2:c.5985A>T
CA349062885
NM_001353955.2:c.5985A>C