This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: GAMT HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000492031.1:p.[Ser117_Trp121delinsGlyGlyAspLeuAla;His124_Pro139delinsProValGlnLeuHisGlnGluProArgLeuSerProAlaGluAlaGly;Gly141_Cys146delinsArgProHisLeuLeuGln]
CA2695223152
ENST00000640762.1:c.349_350del