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
XP_016875451.1:p.Cys648Ser
CA386294835
XM_017019962.2:c.1943G>C
CA386294841
XM_017019962.2:c.1942T>A