Canonical Allele Identifier: PA108851
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 631567
ClinVar RCV Id: RCV000778187

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Glu315Lys
CA342753754
NM_000298.5:c.943G>A