Canonical Allele Identifier: PA128889
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 30048
ClinVar RCV Id: RCV000022950 RCV000148855 RCV000182967 RCV000765740 RCV001841512 RCV002371781 RCV004541013
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092874.1:p.Glu428Lys
CA014651
NM_001099404.2:c.1282G>A