Canonical Allele Identifier: PA105547
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65984
ClinVar RCV Id: RCV000056231 RCV000119483 RCV000685437 RCV004017359 RCV001132049
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg4558Gln
CA024065
NM_000540.3:c.13673G>A