Canonical Allele Identifier: PA2827775222
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2580078
ClinVar RCV Id: RCV003329053
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Pro1981Leu
CA349063061
NM_001353952.2:c.5942C>T