Canonical Allele Identifier: PA645390862
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 397574
ClinVar RCV Id: RCV000449550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Ser1180Phe
CA16609423
NM_024312.5:c.3539C>T