ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826052469
Gene: PQBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
985182
ClinVar RCV Id:
RCV001265954
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161462.1:p.Lys184Thr
CA412890958
NM_001167990.2:c.551A>C