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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000354254.4:p.[Val4815_Val4836delinsGlyGlnAspAlaAlaHisHisProValLeuCysHisProGlnTrpGluThrAlaGlyAspAspArg;Leu4838_Tyr4844delinsProSerGlyGlyGlyArgLeu]
CA2839675522
ENST00000360985.7:c.14443dup