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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.[Glu2412_Leu2418delinsLysLysThr;His2420_Ile2430delinsCysThrTrp;Leu2432_Arg2435delinsThrProSer;Ala2437del;Glu2439Ser;His2441delinsProPro]
CA2573156328
ENST00000599547.6:c.7233del