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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.[Ser2542_Asn2551del;Tyr2553_Leu2559del;Leu2561_Ala2566del;Leu2568_Thr2572delinsArgTrpArgTrpArg]
CA2503579571
ENST00000599547.6:c.7626del