Canonical Allele Identifier: PA105171
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133193
ClinVar RCV Id: RCV000119695 RCV001127650 RCV001236218 RCV001127649 RCV001788007 RCV001788009 RCV001127651 RCV001788011 RCV001788012 RCV001788013 RCV001788008 RCV001788010 RCV002492410 RCV004019662
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala2428Thr
CA024738
NM_000540.3:c.7282G>A