This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: GNPTAB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077288.2:p.Phe161Leu
CA386304959
NM_024312.5:c.483T>G
CA386304960
NM_024312.5:c.483T>A
CA386304965
NM_024312.5:c.481T>C