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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.[His4387Pro;Glu4389_Pro4391delinsArg;Pro4394_Asp4399delinsArgArgArgArgArgArg;Glu4401_Glu4405delinsCysGlnArg;Ala4407_Glu4412delinsArgTrpArgArgArgGly;Ala4414_Ala4420delinsArgTrpArgArgGlyGlyGly]
CA2697556508
ENST00000355481.8:c.13160_13170del