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.Thr350Ser
CA386303112
ENST00000549940.5:c.1049C>G
CA386303118
ENST00000549940.5:c.1048A>T