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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000471601.2:p.[Phe2406_Glu2413delinsLeuValArg;Val2416_His2417del;Gly2419_Arg2435delinsLysLysThrGlyCysThrTrpAspThrProSerCysProSerMetProPro]
CA658824676
ENST00000599547.6:c.7215del