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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.[Leu4657_Cys4664delinsSerAlaSer;Lys4666_Leu4669delinsAlaIleIle;Ile4671_Lys4673delinsSer;Glu4675_Gly4686delinsCysProTrp]
CA2584910041
NM_000540.3:c.13969del