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.Met218Ile	CA6746512 XM_017019962.2:c.654G>A CA386299492 XM_017019962.2:c.654G>T CA386299493 XM_017019962.2:c.654G>C