Canonical Allele Identifier: PA645390574
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 281020
ClinVar RCV Id: RCV000381606 RCV000765036 RCV001114129 RCV001114130 RCV002519076
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Tyr477Asp
CA6746610
NM_024312.5:c.1429T>G