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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.[Val4659_Ile4678delinsGluSerLeuSerGlyArgArgSerTrpProGlySerTrpSerLeuMetAlaCys;Glu4680_Lys4688delinsSerArgSerSerLeuArgThrMetThr]
CA081071
XM_006723319.2:c.13976del