Allele Registry

Canonical Allele Identifier: PA343065

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000031970

ClinVar Variation:

38416

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Ala662Gly	CA343064 NM_024312.5:c.1985C>G