Canonical Allele Identifier: PA105675
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133106
ClinVar RCV Id: RCV000119581 RCV001787966 RCV001787968 RCV001787965 RCV001787967 RCV000536735 RCV001787969 RCV002281942 RCV003325460 RCV001787970 RCV001787971
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg552Trp
CA024299
NM_000540.3:c.1654C>T