Canonical Allele Identifier: PA915962350
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133149
ClinVar RCV Id: RCV000119638 RCV000147431 RCV000203058 RCV000210010 RCV000282227 RCV000387436 RCV000374303 RCV000538850
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro1787Leu
CA024515
NM_001042723.2:c.5360C>T