Canonical Allele Identifier: PA106363
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12977
ClinVar RCV Id: RCV000013846 RCV000162149 RCV000119662 RCV000606881 RCV000655558 RCV001729348
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr2206Met
CA024622
NM_000540.3:c.6617C>T