Canonical Allele Identifier: PA1139680788
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133180
ClinVar RCV Id: RCV000013850 RCV000119679 RCV000171131 RCV001787982 RCV001787984 RCV001787979 RCV001787980 RCV001787981 RCV001384027 RCV001787983 RCV001787985
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Glu2348del
CA024679
NM_001042723.2:c.7042_7044del