Canonical Allele Identifier: PA2825112610
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 811905
ClinVar RCV Id: RCV001002382
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.His127Arg
CA342755920
NM_000298.5:c.380A>G