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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000354254.4:p.[Gly4401_Gly4405delinsValProAlaArg;Gly4407_Gly4412delinsLeuGluThrProArgArg;Gly4414_Asp4415delinsLeu;Glu4417_Gly4424delinsThrArgArgArgArgCysThrArg;Gly4427Arg;Asp4429delinsValProThr]
CA891863129
ENST00000360985.7:c.13202del