Canonical Allele Identifier: PA915962766
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65982
ClinVar RCV Id: RCV000056229 RCV000119763 RCV001383436 RCV003996487
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg2939Lys
CA024952
NM_001042723.2:c.8816G>A