Canonical Allele Identifier: PA645466662
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 292813
ClinVar RCV Id: RCV000374958
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Gly243Ser
CA1144226
NM_000298.5:c.727G>A