Canonical Allele Identifier: PA1139678149
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 872071
ClinVar RCV Id: RCV001092336 RCV001221706 RCV001258047 RCV004017787
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg552Gln
CA062238
NM_001042723.2:c.1655G>A