Canonical Allele Identifier: PA231982
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133126
ClinVar RCV Id: RCV000119610 RCV000456108 RCV001580435 RCV002515808 RCV002483207
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg1140Cys
CA024397
NM_000540.3:c.3418C>T