Canonical Allele Identifier: PA211849
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 68003
ClinVar RCV Id: RCV000058797 RCV000148859 RCV000825448 RCV000765733 RCV000852547 RCV000987197 RCV001842389 RCV003486636 RCV004017380
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092874.1:p.Arg1897Trp
CA353758
NM_001099404.2:c.5689C>T