Canonical Allele Identifier: PA2573180178
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1373705
ClinVar RCV Id: RCV001877444
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ile2380Met
CA069173
NM_001042723.2:c.7140C>G