Canonical Allele Identifier: PA105268
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12973
ClinVar RCV Id: RCV000013840 RCV000056223 RCV000119653 RCV001385701 RCV001787740 RCV001787742 RCV001787743 RCV001787744 RCV001787745 RCV001787746 RCV001787741
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2163Cys
CA024590
NM_000540.3:c.6487C>T