Canonical Allele Identifier: PA199803
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67898
ClinVar RCV Id: RCV000058678 RCV000171569 RCV000619395 RCV001842365 RCV001508490 RCV001542741 RCV004528265 RCV003323383
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092874.1:p.Lys1493Arg
CA018316
NM_001099404.2:c.4478A>G