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: GNPTAB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000299314.7:p.[Pro1062_Asp1064del;Thr1066_Ile1071delinsLys;Pro1073_Val1091del]
CA2058954262
ENST00000299314.11:c.3183_3184insATAAAACCATAGAG