Allele Registry

Canonical Allele Identifier: PA2830405495

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000001577

RCV000724015

RCV000762857

RCV000991156

RCV002251854

ClinVar Variation:

1513

HGVS (amino-acid)	Matching Registered Transcripts
NP_870986.1:p.Arg455Trp	CA215080 NM_181871.4:c.1363C>T