Allele Registry

Canonical Allele Identifier: PA645390862

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000449550

ClinVar Variation:

397574

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Ser1180Phe	CA16609423 NM_024312.5:c.3539C>T