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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.[His4392Pro;Glu4394_Pro4396delinsArg;Pro4399_Asp4404delinsArgArgArgArgArgArg;Glu4406_Glu4410delinsCysGlnArg;Ala4412_Glu4417delinsArgTrpArgArgArgGly;Ala4419_Ala4425delinsArgTrpArgArgGlyGlyGly]
CA2697556508
NM_000540.3:c.13175_13185del