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
NP_620279.1:p.[Met50_Gly61delinsIleCysThrArgTrpProProProProProProLys;Arg63_Met71delinsAlaGlySerTrpArgTrpAlaLeu;Ile73_Ala75delinsTrpPro;Lys77_Val78delinsGlnArg;Gln79_Glu80insArgCysArg]
CA2831039022
NM_138924.3:c.148_149dup