Canonical Allele Identifier: PA1139668193
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 873616

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Arg486Gln
CA1143991
NM_000298.5:c.1457G>A