Allele Registry

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: PKLR HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Trp558Cys	CA342748347 NM_000298.5:c.1674G>T CA342748351 NM_000298.5:c.1674G>C