Canonical Allele Identifier: PA916073804
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 802884
ClinVar RCV Id: RCV000988896
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Asp1152Glu
CA386292776
NM_024312.5:c.3456C>G
CA386292777
NM_024312.5:c.3456C>A