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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.[His4729Trp;Asp4731_Gly4734delinsHisLeu;Glu4736_Ile4738del;Glu4740_Leu4742del;Met4744Ala;Leu4746_Lys4758delinsCys]
CA081116
NM_000540.3:c.14185_14186del