Canonical Allele Identifier: PA232009
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_000531.2:p.Asp17del
CA024489
NM_000540.3:c.51_53del