Canonical Allele Identifier: PA645390449
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 397556
ClinVar RCV Id: RCV000449605
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Val191Ile
CA6746857
NM_024312.5:c.571G>A