Allele Registry

Canonical Allele Identifier: PA2830405246

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000371504

RCV002487303

RCV003137903

ClinVar Variation:

292815

HGVS (amino-acid)	Matching Registered Transcripts
NP_870986.1:p.Ile100del	CA10608268 NM_181871.4:c.298_300del