Canonical Allele Identifier: PA2827772300
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1381398
ClinVar RCV Id: RCV001895339
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Lys42Thr
CA1943566
NM_001353952.2:c.125A>C