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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.[Val2416_Met2423delinsCysThrTrpAspThrPro;Phe2425_Arg2435del;Ala2437del;Glu2439Ser;His2441_Ala2445delinsProPro]
CA633066135
ENST00000599547.6:c.7246del