Canonical Allele Identifier: PA1139745526
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 883626
ClinVar RCV Id: RCV001114207 RCV001114208 RCV002480484
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Ala171Val
CA6746869
NM_024312.5:c.512C>T