Canonical Allele Identifier: PA108952
Gene: PKLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Gly275Arg
CA1144200
NM_000298.5:c.823G>C
CA1144201
NM_000298.5:c.823G>A