Allele Registry

Canonical Allele Identifier: PA284842

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000058934

RCV000673862

RCV001061204

RCV001276855

ClinVar Variation:

68105

557689

855860

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Phe625Leu	CA284841 NM_024312.5:c.1875C>G CA6746514 NM_024312.5:c.1875C>A CA386299524 NM_024312.5:c.1873T>C