Canonical Allele Identifier: PA2741814294
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 2682175
ClinVar RCV Id: RCV003479548 RCV004364824
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Val252Met
CA342754583
NM_000298.5:c.754G>A