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Canonical Allele Identifier: Get Identifier
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.[Val4670_Ile4689delinsGluSerLeuSerGlyArgArgSerTrpProGlySerTrpSerLeuMetAlaCys;Glu4691_Lys4699delinsSerArgSerSerLeuArgThrMetThr]
CA081071
NM_000540.3:c.14009del