Allele Registry

Canonical Allele Identifier: PA2580456785

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV003070914

ClinVar Variation:

2139783

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Asp190Gly	CA6746858 NM_024312.5:c.569A>G