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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000352608.2:p.[Val4831_Val4842delinsCysHisProGlnTrpGluThrAlaGlyAspAspArg;Leu4844_Phe4860delinsProSerGlyGlyGlyArgLeuProValHisArgGlyGlyLeuGlnLeuLeu]
CA2573054762
ENST00000359596.7:c.14490dup