Canonical Allele Identifier: PA254748
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 9369
ClinVar RCV Id: RCV000009963 RCV000058726 RCV000183090 RCV000246905 RCV002307360 RCV003591624 RCV004545721
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000326.2:p.Arg1643His
CA018760
NM_000335.5:c.4928G>A