Allele Registry

Canonical Allele Identifier: PA239361

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000173897

RCV000449633

ClinVar Variation:

193739

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Thr382Pro	CA239360 NM_024312.5:c.1144A>C