Canonical Allele Identifier: PA267602
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 100738
ClinVar RCV Id: RCV000087104 RCV003226196
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Leu785Trp
CA267601
NM_024312.5:c.2354T>G