Canonical Allele Identifier: PA2830405305
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 875543
ClinVar RCV Id: RCV001099488 RCV002556015
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_870986.1:p.Val238Phe
CA1144208
NM_181871.4:c.712G>T