Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
XP_016875450.1:p.Phe330Leu	CA6746683 XM_017019961.1:c.988T>C CA386302601 XM_017019961.1:c.990T>G CA386302603 XM_017019961.1:c.990T>A