Canonical Allele Identifier: PA2573286484
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 1384634
ClinVar RCV Id: RCV001897735
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Met1053Thr
CA6746242
NM_024312.5:c.3158T>C