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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000354254.4:p.[Leu4838_Tyr4844delinsProSerGlyGlyGlyArg;Tyr4846_Ser4861delinsProValHisArgGlyGlyLeuGlnLeuLeuProGlnValLeuGlnGln;Asp4863_Asp4865delinsArgGly]
CA2814346365
ENST00000360985.7:c.14507dup