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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.[Ser2589_Arg2592delinsTyrThrAlaPro;Leu2594delinsTrpTrp;Lys2596delinsLeuCysCysIleProCysThr;Gln2598_Asp2600delinsCysLeuGly;Ile2602_Met2607delinsValArgSerProArgArg;Leu2609_Cys2610delinsValThrSerSer;Tyr2612_Ile2613delinsThrAlaSerCys;Pro2615delinsSerAlaGlyThr;Met2617_Leu2618delinsAlaArgArgCysCys]
CA2697556551
ENST00000360985.7:c.7716_7765dup