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.Lys454Asn	CA386301911 NM_024312.5:c.1362G>T CA386301913 NM_024312.5:c.1362G>C