Canonical Allele Identifier: PA2827785377
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 12883
ClinVar RCV Id: RCV000013743 RCV000059471 RCV000686817 RCV001253103 RCV001311218 RCV002316193 RCV004554602
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Thr847Met
CA256587
NM_001353958.2:c.2540C>T