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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000471601.2:p.[Leu2313_Ala2315delinsTrpPro;Tyr2318_Asn2324delinsThrGlnThrLeuAlaGlyThr;Cys2326_Gly2343delinsValValGluSerAlaThrTrpThrSerCysAlaLeuLeuSerSerSerThrAla]
CA2576771049
ENST00000599547.6:c.6937_6940del