Canonical Allele Identifier: PA2499230868
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1029781
ClinVar RCV Id: RCV001331143

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Arg490Gln
CA1143987
NM_000298.5:c.1469G>A