Canonical Allele Identifier: PA109240
Gene: PKLR HGNC NCBI
ClinVar RCV:
RCV000001572
ClinVar Variation:
1507
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Thr384Met
CA215075
NM_000298.5:c.1151C>T