Canonical Allele Identifier: PA2827772427
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 190002
ClinVar RCV Id: RCV000180958
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.His127Leu
CA303521
NM_001353952.2:c.380A>T