Canonical Allele Identifier: PA2830405310
Gene: PKLR HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_870986.1:p.Gly244Arg
CA1144200
NM_181871.4:c.730G>C
CA1144201
NM_181871.4:c.730G>A