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Canonical Allele Identifier: Get Identifier
Gene: EPM2A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000356489.3:p.[Ile229_Pro232delinsLeuAspAlaAsn;Pro234_Leu245delinsArgTyrGluHisArgArgProSerThrAspAlaAla;Gln247_Ala248delinsGlyGly;Cys250_His253delinsProAlaAlaCys;Leu255_Leu256delinsAlaGly;Lys258del]
CA2573052612
ENST00000367519.9:c.684_685del