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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361622.1:p.[Leu531Arg;Phe533_Leu538delinsHisLeuProAsnProSerAla;Val540_Gln543delinsCysGlyProAlaAla;Ile545_Ser557delinsGlnArgProProValGlnValProAlaProGluGluHis]
CA2579545779
NM_001374693.1:c.1580_1583dup