Canonical Allele Identifier: PA343351
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39035
ClinVar RCV Id: RCV000032300 RCV000626961 RCV000762881
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Cys505Tyr
CA343350
NM_024312.5:c.1514G>A