Canonical Allele Identifier: PA267600
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 100737
ClinVar RCV Id: RCV000087103 RCV001110795 RCV002514535 RCV002228331 RCV003332114
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Ala592Thr
CA267599
NM_024312.5:c.1774G>A