ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830405319
Gene: PKLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3068128
ClinVar RCV Id:
RCV003991808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_870986.1:p.Gly274Glu
CA342753897
NM_181871.4:c.821G>A