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Canonical Allele Identifier: Get Identifier
Gene: GNPTG HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000506886.1:p.[His188_Ala189delinsProArg;Leu191_Tyr193delinsAlaSerVal;Thr195_Leu196delinsAsn;Glu198del;Leu200_Gln206delinsArgGlyProAlaAlaAla;Glu208_Leu211delinsGlyProGlyArg;Asp213_Thr217delinsGlyProGlyArg]
CA2695221402
ENST00000683887.1:c.562dup