Allele Registry

Canonical Allele Identifier: PA108667

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000001575

RCV000224660

RCV003421893

ClinVar Variation:

1511

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Arg510Gln	CA215079 NM_000298.5:c.1529G>A