Canonical Allele Identifier: PA2580457057
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 2189054
ClinVar RCV Id: RCV002607068
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Lys671Arg
CA242456809
NM_024312.5:c.2012A>G