Allele Registry

Canonical Allele Identifier: PA658829686

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000669409

ClinVar Variation:

553877

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Ala662Val	CA242456834 NM_024312.5:c.1985C>T