Canonical Allele Identifier: PA330290
Gene: SCN5A HGNC NCBI

Linked Data

ClinVar Variation Id: 68022
ClinVar RCV Id: RCV000058822 RCV001145569 RCV001149903 RCV001145570 RCV001145571 RCV001145572 RCV001145573 RCV001842402 RCV003654194
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_932173.1:p.Phe2004Val
CA019582
NM_198056.3:c.6010T>G