Canonical Allele Identifier: PA915961390
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133146
ClinVar RCV Id: RCV000119635 RCV001580399
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Asp17del
CA024489
NM_001042723.2:c.51_53del