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Canonical Allele Identifier: Get Identifier
Gene: PURA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000498560.1:p.[Gly31_Gly34delinsAlaArgAspAla;Gly36Ala;Gly38_Gly40delinsLeuGlnAla;Ser43_Ala50delinsHis;Gly52_His56del;Thr58del;Glu60Ala;Ala62_Lys64delinsLeuProGly;Val66_Lys71delinsGluAlaGlu;Phe73_Lys78del;Asn80_Lys82del;Arg84_Phe85delinsProLeu]
CA2513137128
ENST00000505703.2:c.92_165del