Canonical Allele Identifier: PA915961968
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133124
ClinVar RCV Id: RCV000119607 RCV000148799 RCV000546583 RCV001824614 RCV002498550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg1043Cys
CA024388
NM_001042723.2:c.3127C>T