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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016869694.1:p.[Gly241del;Cys244Gly;Gly247_Trp248delinsTrpGly;Asn251_Tyr252delinsCysArgTrp;Leu253_Pro254insGlySerGluLeu;Phe255_Phe256delinsProVal;Met258delinsProAspGly;Lys260Asp;Phe263Pro;Tyr265_Tyr267delinsPro;Ala270_Leu271insArg]
CA590946806
XM_017014205.2:c.706_721dup