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.Gln690His	CA386299061 NM_024312.5:c.2070G>T CA386299062 NM_024312.5:c.2070G>C