Canonical Allele Identifier: PA915962349
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 451604
ClinVar RCV Id: RCV000523537 RCV003757184 RCV004003627
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Pro1780Arg
CA9415807
NM_001042723.2:c.5339C>G