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
ENSP00000449150.1:p.Thr150Ser
CA386305026
ENST00000549940.5:c.449C>G
CA386305027
ENST00000549940.5:c.448A>T