Canonical Allele Identifier: PA2827772601
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 212120
ClinVar RCV Id: RCV000194307
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Leu240Pro
CA208402
NM_001353952.2:c.719T>C