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.Val280Leu	CA342754232 XM_017001493.1:c.838G>C CA342754233 XM_017001493.1:c.838G>T