Allele Registry

Canonical Allele Identifier: PA645390574

Gene: GNPTAB HGNC NCBI

ClinVar Allele:

265257

ClinVar RCV:

RCV000381606

RCV000765036

RCV001114129

RCV001114130

RCV002519076

ClinVar Variation:

281020

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Tyr477Asp	CA6746610 NM_024312.5:c.1429T>G