Allele Registry

Canonical Allele Identifier: PA113275

Gene: GNPTAB HGNC NCBI

ClinVar Allele:

384457

ClinVar RCV:

RCV000449553

RCV002469150

RCV003221982

ClinVar Variation:

397568

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Arg986Cys	CA6746287 NM_024312.5:c.2956C>T