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.Met1053Leu	CA386294886 NM_024312.5:c.3157A>T CA386294888 NM_024312.5:c.3157A>C