Allele Registry

Canonical Allele Identifier: PA108890

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000625798

RCV003488737

ClinVar Variation:

522658

HGVS (amino-acid)	Matching Registered Transcripts
NP_000289.1:p.Gly111Arg	CA30904892 NM_000298.5:c.331G>A CA342756207 NM_000298.5:c.331G>C