Canonical Allele Identifier: PA2827755857
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1391311
ClinVar RCV Id: RCV001893008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340878.1:p.Pro82Leu
CA349242671
NM_001353949.2:c.245C>T