Canonical Allele Identifier: PA2830405254
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2635060
ClinVar RCV Id: RCV003402740

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_870986.1:p.Ala123Thr
CA1144334
NM_181871.4:c.367G>A