Allele Registry

Canonical Allele Identifier: PA658807227

Gene: PKLR HGNC NCBI

ClinVar RCV:

RCV000625798

RCV003488737

ClinVar Variation:

522658

HGVS (amino-acid)	Matching Registered Transcripts
NP_870986.1:p.Gly80Arg	CA30904892 NM_181871.4:c.238G>A CA342756207 NM_181871.4:c.238G>C