Canonical Allele Identifier: PA2573286194
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 1387230
ClinVar RCV Id: RCV001881842
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Ile403Met
CA242462233
NM_024312.5:c.1209T>G