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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006723382.1:p.[His4718Trp;Asp4720_Gly4723delinsHisLeu;Glu4725_Ile4727del;Glu4729_Leu4731del;Met4733Ala;Leu4735_Lys4747delinsCys]
CA081116
XM_006723319.2:c.14152_14153del