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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000343034.7:p.[Leu617_Gln618insGluGluHisLeu;Ser620_Ala624delinsProGlyGlyGly;Val627_Cys634delinsLeuLeuArgValProArgValGln;Val636_Asn638delinsAlaAlaPro;Leu640_Pro642delinsHis;Thr644_Tyr645delinsArg;Asp647Gln]
CA5293918
ENST00000341012.13:c.1852_1853del