Canonical Allele Identifier: PA2830405550
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 806233
ClinVar RCV Id: RCV000994122
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_870986.1:p.Gly505Val
CA342750267
NM_181871.4:c.1514G>T