Canonical Allele Identifier: PA2830405257
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_870986.1:p.Thr133Asn
CA342755455
NM_181871.4:c.398C>A