Allele Registry

Canonical Allele Identifier: PA645466671

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000224042

RCV000764981

RCV001095923

RCV003929928

ClinVar Variation:

235407

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Val506Ile	CA1143975 NM_000298.5:c.1516G>A