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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000347667.3:p.[Val4826_Val4837delinsCysHisProGlnTrpGluThrAlaGlyAspAspArg;Leu4839_Phe4855delinsProSerGlyGlyGlyArgLeuProValHisArgGlyGlyLeuGlnLeuLeu]
CA2573054762
ENST00000355481.8:c.14475dup