Allele Registry

Canonical Allele Identifier: PA2830405351

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV002019914

RCV002250798

ClinVar Variation:

1501779

HGVS (amino-acid)	Matching Registered Transcripts
NP_870986.1:p.Asp308Asn	CA1144135 NM_181871.4:c.922G>A