Allele Registry

Canonical Allele Identifier: PA113369

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000002903

RCV000031965

RCV000669013

ClinVar Variation:

2774

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Lys4Gln	CA252414 NM_024312.5:c.10A>C