Canonical Allele Identifier: PA113388
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 2775
ClinVar RCV Id: RCV000002904 RCV000002905
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Phe374Leu
CA252415
NM_024312.5:c.1120T>C
CA386302876
NM_024312.5:c.1122T>G
CA386302877
NM_024312.5:c.1122T>A