Canonical Allele Identifier: PA2825944636
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 242196
ClinVar RCV Id: RCV000261453 RCV000283704 RCV000372478 RCV000323546 RCV000380484 RCV000341019 RCV001094829 RCV001843002 RCV002450713 RCV003654243
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001153633.1:p.Val1127Ala
CA062009
NM_001160161.2:c.3380T>C