Canonical Allele Identifier: PA2830023836
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 3100690
ClinVar RCV Id: RCV004395567

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Gly1049Arg
CA386294939
NM_024312.5:c.3145G>C