Canonical Allele Identifier: PA149258
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 68107
ClinVar RCV Id: RCV000058936 RCV000082193 RCV001084285 RCV001110621 RCV001110620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Glu1200Lys
CA149257
NM_024312.5:c.3598G>A