Canonical Allele Identifier: PA645390821
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 306800
ClinVar RCV Id: RCV000311094 RCV000368145 RCV000974742
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Thr1066Met
CA6746234
NM_024312.5:c.3197C>T