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Canonical Allele Identifier: Get Identifier
Gene: PURA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499133.1:p.[Lys250_Lys262delinsAsnGluAlaHisLeuSerGlnLeuHisHisArgAlaLeuGlnGly;Trp264_Gly268delinsGlyGlnValArgThr;Thr270_Lys279delinsLeuLeuGlnValLeuGlyGlyAspGluGlu]
CA658774050
ENST00000651386.1:c.746_749dup