Allele Registry

Canonical Allele Identifier: PA2830405535

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000001575

RCV000224660

RCV003421893

ClinVar Variation:

1511

HGVS (amino-acid)	Matching Registered Transcripts
NP_870986.1:p.Arg479Gln	CA215079 NM_181871.4:c.1436G>A