Canonical Allele Identifier: PA2827750492
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68508
ClinVar RCV Id: RCV000059380 RCV002345371 RCV002514305
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Phe403Leu
CA284874
NM_001353948.2:c.1207T>C
CA349070974
NM_001353948.2:c.1209T>G
CA349070975
NM_001353948.2:c.1209T>A