Allele Registry

Canonical Allele Identifier: PA109199

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000001578

ClinVar Variation:

1514

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Ser130Tyr	CA215081 NM_000298.5:c.389C>A