Allele Registry

Canonical Allele Identifier: PA645390492

Gene: GNPTAB HGNC NCBI

ClinVar RCV:

RCV000449568

ClinVar Variation:

397558

HGVS (amino-acid)	Matching Registered Transcripts
NP_077288.2:p.Pro341del	CA16609433 NM_024312.5:c.1021_1023del