Canonical Allele Identifier: PA2573095641
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 1306188
ClinVar RCV Id: RCV001767141

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Arg951Gln
CA6746338
NM_024312.5:c.2852G>A