Allele Registry

Canonical Allele Identifier: PA2830405551

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000522980

RCV000764980

ClinVar Variation:

449546

HGVS (amino-acid)	Matching Registered Transcripts
NP_870986.1:p.Glu507Asp	CA1143959 NM_181871.4:c.1521A>T CA342750213 NM_181871.4:c.1521A>C