ClinGen Allele Registry
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Canonical Allele Identifier:
PA916078928
Gene: PKLR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
811905
ClinVar RCV Id:
RCV001002382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_870986.1:p.His96Arg
CA342755920
NM_181871.4:c.287A>G