Allele Registry

Canonical Allele Identifier: PA113335

Gene: GNPTAB HGNC NCBI

ClinVar Allele:

47664

ClinVar RCV:

RCV000032326

RCV001852649

ClinVar Variation:

39061

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.His956Tyr	CA343383 NM_024312.5:c.2866C>T