Canonical Allele Identifier: PA2827781172
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1313918
ClinVar RCV Id: RCV001771149
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340884.1:p.Met1947del
CA2573051700
NM_001353955.2:c.5841_5843del