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_016875451.1:p.Lys531Asn	CA386296284 XM_017019962.2:c.1593A>T CA386296285 XM_017019962.2:c.1593A>C