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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006723380.1:p.[His4723del;Asp4725_Gly4728delinsHisLeu;Glu4730_Ile4732del;Glu4734_Leu4736del;Met4738Ala;Leu4740_Pro4753delinsCys]
CA2502087441
XM_006723317.2:c.14166_14170del