Canonical Allele Identifier: PA2830405323
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1687598
ClinVar RCV Id: RCV002251280
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_870986.1:p.Glu284Asp
CA342753739
NM_181871.4:c.852G>T
CA342753741
NM_181871.4:c.852G>C