Canonical Allele Identifier: PA2825494118
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 423924
ClinVar RCV Id: RCV000482322 RCV001841399 RCV002420242 RCV002481535 RCV003766725
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092875.1:p.Arg693Cys
CA059716
NM_001099405.2:c.2077C>T