Canonical Allele Identifier: PA303151
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189867
ClinVar RCV Id: RCV000180820 RCV000256008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Cys948Tyr
CA303149
NM_006920.6:c.2843G>A