Canonical Allele Identifier: PA2830405319
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3068128
ClinVar RCV Id: RCV003991808

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_870986.1:p.Gly274Glu
CA342753897
NM_181871.4:c.821G>A