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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.[Pro4399_Asp4402delinsArg;Asp4404_Gly4407delinsGluThrGlnThr;Ser4409_Gly4411delinsArgValPro;Gly4413_Asp4414delinsArg;Ala4416Leu;Gly4418_Glu4423delinsThrProArgArgAlaLeu;Ala4425_Glu4428delinsThrArgArgArgArgCysThr]
CA2584909158
NM_000540.3:c.13194del