Canonical Allele Identifier: PA2830405320
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 292810
ClinVar RCV Id: RCV000369340 RCV003480579
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_870986.1:p.His275Gln
CA1144178
NM_181871.4:c.825C>A
CA342753878
NM_181871.4:c.825C>G