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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.[Glu2382_Ile2386delinsArgProSerAla;Glu2388_Ala2391delinsProArgThrLeu;Asp2393_Pro2411delinsGlyMetAlaGlnAlaSerAlaGlyThrGlyGlyAlaSerThrLeuValArgAsnArgLeu]
CA2739276775
ENST00000599547.6:c.7144del