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_000147.1:p.[Ser17Thr;Ala19_Trp20delinsArgGly;Ala22_Ala23delinsArgArg;Ala25_Asp31delinsArgProThrThrGlnArg;His33_Leu34del;Ile36_Glu43delinsThrCysAlaSerTrpAlaSer;Trp45_Glu46del]
CA2695198107
NM_000156.6:c.50del