Canonical Allele Identifier: PA199809
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67713
ClinVar RCV Id: RCV000058480 RCV000171571 RCV000182996 RCV000619698 RCV001842311
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001092874.1:p.Pro701Leu
CA015838
NM_001099404.2:c.2102C>T