Canonical Allele Identifier: PA2825940729
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 48289
ClinVar RCV Id: RCV000041604 RCV000058440 RCV000251327 RCV000300603 RCV000339196 RCV000304709 RCV000405409 RCV000361696 RCV000406777 RCV000987225 RCV001841593 RCV003125879 RCV002496658
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153632.1:p.His558Arg
CA015145
NM_001160160.2:c.1673A>G