Canonical Allele Identifier: PA1139668070
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 875547
ClinVar RCV Id: RCV001099492
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000289.1:p.Thr164Asn
CA342755455
NM_000298.5:c.491C>A