Canonical Allele Identifier: PA232069
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133186
ClinVar RCV Id: RCV000119686 RCV001802867
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Pro2366Arg
CA024705
NM_000540.3:c.7097C>G