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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.[Met2639_Thr2645del;His2647_Pro2658delinsAla;Gly2660_Trp2661delinsGln;Asn2663_Ser2668delinsProHisGlnProLeu]
CA507354102
ENST00000599547.6:c.7915dup