Canonical Allele Identifier: PA2827788180
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189929
ClinVar RCV Id: RCV000180882 RCV001344647 RCV003482238
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Pro739Leu
CA303333
NM_001353960.2:c.2216C>T