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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011525506.1:p.[His4391Pro;Glu4393_Pro4395delinsArg;Pro4398_Asp4403delinsArgArgArgArgArgArg;Glu4405_Glu4409delinsCysGlnArg;Ala4411_Glu4416delinsArgTrpArgArgArgGly;Ala4418_Ala4424delinsArgTrpArgArgGlyGlyGly]
CA2697556508
XM_011527204.1:c.13172_13182del