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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.[Val4825_Val4836delinsCysHisProGlnTrpGluThrAlaGlyAspAspArg;Leu4838_Phe4854delinsProSerGlyGlyGlyArgLeuProValHisArgGlyGlyLeuGlnLeuLeu]
CA2573054762
ENST00000360985.7:c.14472dup