Canonical Allele Identifier: PA645390867
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 397573
ClinVar RCV Id: RCV000449510
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Phe1192Ser
CA16609422
NM_024312.5:c.3575T>C