Allele Registry

Canonical Allele Identifier: PA645466667

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000490506

RCV001507460

RCV002478762

ClinVar Variation:

225440

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Val460Ala	CA1144023 NM_000298.5:c.1379T>C