Canonical Allele Identifier: PA2827788487
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189867
ClinVar RCV Id: RCV000180820 RCV000256008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Cys930Tyr
CA303149
NM_001353960.2:c.2789G>A