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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011516447.1:p.[Leu518Arg;Phe520_Leu525delinsHisLeuProAsnProSerAla;Val527_Gln530delinsCysGlyProAlaAla;Ile532_Ser544delinsGlnArgProProValGlnValProAlaProGluGluHis]
CA2579545779
XM_011518145.2:c.1541_1544dup