Canonical Allele Identifier: PA105307
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133174
ClinVar RCV Id: RCV000119673 RCV000554523 RCV001787975 RCV001787977 RCV001787978 RCV002281943 RCV001787974 RCV001787976 RCV001787972 RCV001787973 RCV001824615
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2336His
CA024662
NM_000540.3:c.7007G>A