Canonical Allele Identifier: PA231863
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133058
ClinVar RCV Id: RCV000119500 RCV003221808
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Tyr4733Asp
CA024110
NM_000540.3:c.14197T>G