Allele Registry

Canonical Allele Identifier: PA2830405489

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000001574

RCV001781165

ClinVar Variation:

1510

HGVS (amino-acid)	Matching Registered Transcripts
NP_870986.1:p.Arg448His	CA215078 NM_181871.4:c.1343G>A