Canonical Allele Identifier: PA2827749726
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 375512
ClinVar RCV Id: RCV000416974
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Ser228Pro
CA16044315
NM_001353948.2:c.682T>C