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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.[Gly4407_Gly4411delinsValProAlaArg;Gly4413_Gly4418delinsLeuGluThrProArgArg;Gly4420_Asp4421delinsLeu;Glu4423_Gly4430delinsThrArgArgArgArgCysThrArg;Gly4433Arg;Asp4435delinsValProThr]
CA891863129
NM_000540.3:c.13220del