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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340128.2:p.[Gly523del;Cys526Gly;Gly529_Trp530delinsTrpGly;Asn533_Tyr534delinsCysArgTrp;Leu535_Pro536insGlySerGluLeu;Phe537_Phe538delinsProVal;Met540delinsProAspGly;Lys542Asp;Phe545Pro;Tyr547_Tyr549delinsPro;Ala552_Leu553insArg]
CA590946806
NM_001353199.2:c.1552_1567dup