Canonical Allele Identifier: PA113255
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 39019
ClinVar RCV Id: RCV000032284 RCV001246458
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Arg334Leu
CA343332
NM_024312.5:c.1001G>T