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
NP_077288.2:p.Asp682Glu	CA386299112 NM_024312.5:c.2046T>G CA386299113 NM_024312.5:c.2046T>A