Canonical Allele Identifier: PA2826260626
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2846763
ClinVar RCV Id: RCV003754652
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001189364.1:p.Asp1816Glu
CA349067509
NM_001202435.3:c.5448T>G
CA349067511
NM_001202435.3:c.5448T>A