Allele Registry

Canonical Allele Identifier: PA108620

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000508434

RCV003133292

RCV004554794

ClinVar Variation:

440152

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Arg488Gln	CA1143990 NM_000298.5:c.1463G>A