Allele Registry

Canonical Allele Identifier: PA2830405477

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000490506

RCV001507460

RCV002478762

ClinVar Variation:

225440

HGVS (amino-acid)	Matching Registered Transcripts
NP_870986.1:p.Val429Ala	CA1144023 NM_181871.4:c.1286T>C