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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006723382.1:p.[His4381Pro;Glu4383_Pro4385delinsArg;Pro4388_Asp4393delinsArgArgArgArgArgArg;Glu4395_Glu4399delinsCysGlnArg;Ala4401_Glu4406delinsArgTrpArgArgArgGly;Ala4408_Ala4414delinsArgTrpArgArgGlyGlyGly]
CA2697556508
XM_006723319.2:c.13142_13152del