Canonical Allele Identifier: PA105350
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65979
ClinVar RCV Id: RCV000056226 RCV000119706 RCV000527240 RCV001787851 RCV001787852 RCV001787853 RCV001787848 RCV001787850 RCV002221195 RCV002281899 RCV001729374 RCV001787847 RCV001787849
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg2452Trp
CA024770
NM_000540.3:c.7354C>T