Allele Registry

Canonical Allele Identifier: PA267602

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000087104

RCV003226196

ClinVar Variation:

100738

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Leu785Trp	CA267601 NM_024312.5:c.2354T>G