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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.[His4386Pro;Glu4388_Pro4390delinsArg;Pro4393_Asp4398delinsArgArgArgArgArgArg;Glu4400_Glu4404delinsCysGlnArg;Ala4406_Glu4411delinsArgTrpArgArgArgGly;Ala4413_Ala4419delinsArgTrpArgArgGlyGlyGly]
CA2697556508
ENST00000360985.7:c.13157_13167del