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.Phe411Leu
CA386302503
ENST00000299314.11:c.1233T>G
CA386302504
ENST00000299314.11:c.1233T>A
CA386302512
ENST00000299314.11:c.1231T>C