Canonical Allele Identifier: PA239361
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 193739
ClinVar RCV Id: RCV000173897 RCV000449633
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Thr382Pro
CA239360
NM_024312.5:c.1144A>C