Canonical Allele Identifier: PA2830405458
Gene: PKLR HGNC NCBI
ClinVar RCV:
RCV000001573
ClinVar Variation:
1509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_870986.1:p.Gln390Lys
CA215077
NM_181871.4:c.1168C>A