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_011537033.1:p.Lys427Asn	CA386301911 XM_011538731.2:c.1281G>T CA386301913 XM_011538731.2:c.1281G>C