Canonical Allele Identifier: PA343084
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 38431
ClinVar RCV Id: RCV000031988 RCV000632919 RCV001729354
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Asp190Val
CA343083
NM_024312.5:c.569A>T