Canonical Allele Identifier: PA2580146999
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1972639
ClinVar RCV Id: RCV002730667
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Phe2569Ser
CA070023
NM_001042723.2:c.7706T>C