Canonical Allele Identifier: PA2827789028
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189990
ClinVar RCV Id: RCV000180946 RCV001219498 RCV002272155
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Leu1323Pro
CA303491
NM_001353960.2:c.3968T>C