Canonical Allele Identifier: PA231952
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133100
ClinVar RCV Id: RCV000119575 RCV001802865
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Tyr522Cys
CA024287
NM_000540.3:c.1565A>G