Allele Registry

Canonical Allele Identifier: PA108601

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000001574

RCV001781165

ClinVar Variation:

1510

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Arg479His	CA215078 NM_000298.5:c.1436G>A