Canonical Allele Identifier: PA108829
Gene: PKLR HGNC NCBI
ClinVar RCV:
RCV000001573
ClinVar Variation:
1509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Gln421Lys
CA215077
NM_000298.5:c.1261C>A