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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011525506.1:p.[His4728Trp;Asp4730_Gly4733delinsHisLeu;Glu4735_Ile4737del;Glu4739_Leu4741del;Met4743Ala;Leu4745_Lys4757delinsCys]
CA081116
XM_011527204.1:c.14182_14183del