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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.[Met2186_His2194delinsIleGluGlnGlnSerLeuLeuProThr;Asn2196_Leu2201delinsGluProAspGluGlyAla;Met2203_Leu2215delinsHisAlaArgAspGlyHisGlyGlyHisGlyGlnArgProArg]
CA2843262369
ENST00000599547.6:c.6557dup