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Canonical Allele Identifier: Get Identifier
Gene: POMT2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_037514.2:p.[Arg686Ala;Ala689_Trp690delinsLeuGlyLeu;Ala693_Trp695delinsMetAla;Leu697_Arg699delinsGlyGlu;Ile701_Ala704delinsHisThrCysGly;Ile706_Leu711delinsAsnProGluProAlaPro;Thr713_Tyr715delinsAsnCysLeuGln]
CA2575587529
NM_013382.7:c.2056_2057del