Allele Registry

Canonical Allele Identifier: PA645390426

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000333955

RCV000765037

RCV001110169

RCV001114209

RCV002519075

ClinVar Variation:

281019

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Ile167Asn	CA6746871 NM_024312.5:c.500T>A