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.Leu333Phe
CA386303251
ENST00000299314.11:c.999G>T
CA386303252
ENST00000299314.11:c.999G>C