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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.[Gly4402_Gly4406delinsValProAlaArg;Gly4408_Gly4413delinsLeuGluThrProArgArg;Gly4415_Asp4416delinsLeu;Glu4418_Gly4425delinsThrArgArgArgArgCysThrArg;Gly4428Arg;Asp4430delinsValProThr]
CA891863129
NM_001042723.2:c.13205del