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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000503552.1:p.[Gly501del;Cys504Gly;Gly507_Trp508delinsTrpGly;Asn511_Tyr512delinsCysArgTrp;Leu513_Pro514insGlySerGluLeu;Phe515_Phe516delinsProVal;Met518delinsProAspGly;Lys520Asp;Phe523Pro;Tyr525_Tyr527delinsPro;Ala530_Leu531insArg]
CA590946806
ENST00000677626.1:c.1486_1501dup