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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011525507.1:p.[Ala4299_Ala4300delinsArgProGln;Arg4303delinsProCysGlu;Leu4305_Arg4319delinsSerAlaThrAlaAlaCysGlyGlyAlaCysGlyGlyCysGlyGly;Arg4322_Thr4324delinsPro;Glu4327Arg;Ala4329del]
CA2584909130
XM_011527205.2:c.12895del