Canonical Allele Identifier: PA108547
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 67985
ClinVar RCV Id: RCV000058771 RCV000148849 RCV000183115 RCV000617171 RCV001146113 RCV001146114 RCV001146115 RCV001146116 RCV001146117 RCV000786219 RCV001146112 RCV001842384
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Thr1779Met
CA019134
NM_198056.3:c.5336C>T