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Canonical Allele Identifier: Get Identifier
Gene: GNPTG HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_115909.1:p.[His172_Ala173delinsProArg;Leu175_Tyr177delinsAlaSerVal;Thr179_Leu180delinsAsn;Glu182del;Leu184_Gln190delinsArgGlyProAlaAlaAla;Glu192_Leu195delinsGlyProGlyArg;Asp197_Thr201delinsGlyProGlyArg]
CA2695221402
NM_032520.5:c.514dup