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
XP_016856982.1:p.Asp268Glu	CA342754350 XM_017001493.1:c.804C>G CA342754352 XM_017001493.1:c.804C>A