Canonical Allele Identifier: PA232108
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133210
ClinVar RCV Id: RCV000056060 RCV000119725
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu2550Val
CA024842
NM_000540.3:c.7648C>G