Canonical Allele Identifier: PA2827774065
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 189968
ClinVar RCV Id: RCV000180922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340881.1:p.Thr1289Arg
CA303438
NM_001353952.2:c.3866C>G