Allele Registry

Canonical Allele Identifier: PA2830405499

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000508434

RCV003133292

RCV004554794

ClinVar Variation:

440152

HGVS (amino-acid)	Matching Registered Transcripts
NP_870986.1:p.Arg457Gln	CA1143990 NM_181871.4:c.1370G>A