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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.[Pro4399Ala;Gly4401_Glu4406delinsArgArgArgArgArgArg;Ala4408_Glu4410delinsCysGlnArg;Ala4412_Glu4417delinsArgTrpArgArgArgGly;Ala4419_Glu4428delinsArgTrpArgArgGlyGlyGlyGlyAlaArg]
CA2584909157
NM_000540.3:c.13194dup