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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000361302.3:p.[Gly640del;Cys643Gly;Gly646_Trp647delinsTrpGly;Asn650_Tyr651delinsCysArgTrp;Leu652_Pro653insGlySerGluLeu;Phe654_Phe655delinsProVal;Met657delinsProAspGly;Lys659Asp;Phe662Pro;Tyr664_Tyr666delinsPro;Ala669_Leu670insArg]
CA590946806
ENST00000372228.9:c.1903_1918dup