Canonical Allele Identifier: PA2827749583
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2203204
ClinVar RCV Id: RCV002664269
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Asn191Lys
CA349075360
NM_001353948.2:c.573C>G
CA349075361
NM_001353948.2:c.573C>A