Canonical Allele Identifier: PA2825942743
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 518750
ClinVar RCV Id: RCV000619017 RCV001148683 RCV000801579 RCV000987196 RCV001148679 RCV001148680 RCV001148681 RCV001148682 RCV001841789 RCV001701400 RCV003330832
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153632.1:p.Arg1865Cys
CA064645
NM_001160160.2:c.5593C>T