Canonical Allele Identifier: PA915961684
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 808532
ClinVar RCV Id: RCV000996859 RCV001858845 RCV004004444
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Arg530Cys
CA062167
NM_001042723.2:c.1588C>T