Allele Registry

Canonical Allele Identifier: PA2830405531

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000224042

RCV000764981

RCV001095923

RCV003929928

ClinVar Variation:

235407

HGVS (amino-acid)	Matching Registered Transcripts
NP_870986.1:p.Val475Ile	CA1143975 NM_181871.4:c.1423G>A