Canonical Allele Identifier: PA2827923698
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 9383
ClinVar RCV Id: RCV000009981 RCV000058743 RCV000197520 RCV000183102 RCV000246596 RCV001841234 RCV002504774 RCV004554591 RCV004017232
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341630.1:p.Ser1691Leu
CA018910
NM_001354701.2:c.5072C>T