Allele Registry

Canonical Allele Identifier: PA284844

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000058935

RCV002514295

RCV003330422

ClinVar Variation:

68106

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Ser321Gly	CA284843 NM_024312.5:c.961A>G