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Canonical Allele Identifier: Get Identifier
Gene: POMT1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340123.1:p.[Val147_Phe155delinsTrpAlaSerSerThrTrpValCysSerArg;Tyr157_Leu159delinsCysSerCysTrp;Gly162_His170delinsGlnLeuSerMetProGlyThrCys;Leu172_Thr176delinsGluThrArgLeu]
CA2692194285
NM_001353194.2:c.439del