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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.[Pro4394Ala;Gly4396_Glu4401delinsArgArgArgArgArgArg;Ala4403_Glu4405delinsCysGlnArg;Ala4407_Glu4412delinsArgTrpArgArgArgGly;Ala4414_Glu4423delinsArgTrpArgArgGlyGlyGlyGlyAlaArg]
CA2584909157
NM_001042723.2:c.13179dup