Canonical Allele Identifier: PA2827762345
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2119658
ClinVar RCV Id: RCV003033203
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Asp43His
CA349243124
NM_001353950.2:c.127G>C