Canonical Allele Identifier: PA915961528
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12965
ClinVar RCV Id: RCV000013831 RCV000119713 RCV001851834 RCV004017237
ClinVar Variation Id: 133203
ClinVar RCV Id: RCV000119714 RCV000704587 RCV002281946 RCV003330082
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Gly248Arg
CA024797
NM_001042723.2:c.742G>A
CA024799
NM_001042723.2:c.742G>C