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
ENSP00000449217.1:p.Asn47Lys
CA386304904
ENST00000552681.1:c.141T>G
CA386304905
ENST00000552681.1:c.141T>A