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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.[Ser2542_Cys2555delinsLeuLeuIleGlnHisHisArgAspGlyAlaGlyAlaGluPro;Ala2557Pro;Leu2559_Lys2564delinsProGlyArgAlaAlaAlaHisHisGlnVal;Pro2567Ala;Phe2569_Ala2570delinsCysGly]
CA995717054
ENST00000599547.6:c.7622_7623insTTTACTGATA