Canonical Allele Identifier: PA2827921952
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 191381
ClinVar RCV Id: RCV000171573 RCV000987227 RCV001842513 RCV003539805 RCV003298204 RCV002485090
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341630.1:p.Ala551Val
CA015094
NM_001354701.2:c.1652C>T