Canonical Allele Identifier: PA2830405528
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2431446
ClinVar RCV Id: RCV003140500

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_870986.1:p.Arg473Leu
CA1143977
NM_181871.4:c.1418G>T