Canonical Allele Identifier: PA108657
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2431446
ClinVar RCV Id: RCV003140500

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Arg504Leu
CA1143977
NM_000298.5:c.1511G>T