Allele Registry

Canonical Allele Identifier: PA2573165841

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV002019914

RCV002250798

ClinVar Variation:

1501779

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Asp339Asn	CA1144135 NM_000298.5:c.1015G>A