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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000471601.2:p.[Pro2616_Val2630delinsArgArgCysCysSerThrCysCysAlaAlaTrpCysSerThrCys;Ile2632_Thr2645delinsSerSerThrSerSerProArgCysHisSerSerSerSerPro]
CA1139666424
ENST00000599547.6:c.7847del