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.Thr497Ser	CA342751230 NM_000298.5:c.1490C>G CA342751233 NM_000298.5:c.1489A>T