Canonical Allele Identifier: PA109199
Gene: PKLR HGNC NCBI
ClinVar RCV:
RCV000001578
ClinVar Variation:
1514
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Ser130Tyr
CA215081
NM_000298.5:c.389C>A