Canonical Allele Identifier: PA113242
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39018
ClinVar RCV Id: RCV000032283 RCV001852647
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Arg334Gln
CA343331
NM_024312.5:c.1001G>A