Canonical Allele Identifier: PA2830405492
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2434903
ClinVar RCV Id: RCV003134951

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_870986.1:p.Ala450Val
CA1143994
NM_181871.4:c.1349C>T