Canonical Allele Identifier: PA2825129395
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 2762740
ClinVar RCV Id: RCV003570233
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000326.2:p.Ser549Arg
CA352146981
NM_000335.5:c.1647C>G
CA352146984
NM_000335.5:c.1647C>A
CA352147000
NM_000335.5:c.1645A>C