Canonical Allele Identifier: PA2826260209
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 448255
ClinVar RCV Id: RCV000518137 RCV000690853 RCV002289705
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Arg1596His
CA1942737
NM_001202435.3:c.4787G>A