Allele Registry

Canonical Allele Identifier: PA109240

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000001572

ClinVar Variation:

1507

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Thr384Met	CA215075 NM_000298.5:c.1151C>T