Canonical Allele Identifier: PA2741985489
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 2621361
ClinVar RCV Id: RCV003385235

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Asp462Asn
CA386301808
NM_024312.5:c.1384G>A