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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.[Ala2539_Met2546delinsAspPheGlnHisHisArgAspGly;Leu2548Gly;Leu2550_Lys2564delinsGluProLeuProValProGlyArgAlaAlaAlaHisHisGlnVal;Pro2567Ala;Phe2569del]
CA995717029
ENST00000599547.6:c.7616_7617del