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Canonical Allele Identifier: Get Identifier
Gene: UROS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000497817.1:p.[Leu232_Gln235delinsGlyArgPro;Leu237del;Val239del;Thr242_Thr247delinsLysLeuHisCysArgGlu;Gln249His;Leu251_Thr253delinsThrSerPro;Ile255_Gln260delinsHisTrpHisGlnGluGlySer;Pro261_His262insAla]
CA933571198
ENST00000649536.1:c.693_694del