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
ENSP00000299314.7:p.Met1053Leu
CA386294886
ENST00000299314.11:c.3157A>T
CA386294888
ENST00000299314.11:c.3157A>C