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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011525507.1:p.[His4700del;Asp4702_Gly4705delinsHisLeu;Glu4707_Ile4709del;Glu4711_Leu4713del;Met4715Ala;Leu4717_Pro4730delinsCys]
CA2502087441
XM_011527205.2:c.14097_14101del