Canonical Allele Identifier: PA105284
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12974
ClinVar RCV Id: RCV000013841 RCV000013842 RCV000119654 RCV001204982 RCV001787751 RCV001787752 RCV001787753 RCV001787747 RCV001787749 RCV001787748 RCV001787750
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2163His
CA024593
NM_000540.3:c.6488G>A