Canonical Allele Identifier: PA232129
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65982
ClinVar RCV Id: RCV000056229 RCV000119763 RCV001383436 RCV003996487
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2939Lys
CA024952
NM_000540.3:c.8816G>A