Allele Registry

Canonical Allele Identifier: PA108829

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000001573

ClinVar Variation:

1509

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Gln421Lys	CA215077 NM_000298.5:c.1261C>A