Allele Registry

Canonical Allele Identifier: PA658670022

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000522980

RCV000764980

ClinVar Variation:

449546

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Glu538Asp	CA1143959 NM_000298.5:c.1614A>T CA342750213 NM_000298.5:c.1614A>C