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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.[Leu2376_Asp2389delinsProAlaGlyCysHisArgArgGlyHisProHisLeuArgGly;Ala2391_Gly2394delinsCysGluGlyTrp;Gly2396_His2405delinsArgHisProGlnGlyProAlaAlaArgAla]
CA2843262410
ENST00000599547.6:c.7126dup