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.Phe1176Leu
CA6746124
ENST00000299314.11:c.3528C>A
CA6746125
ENST00000299314.11:c.3528C>G
CA386292421
ENST00000299314.11:c.3526T>C