ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829626570
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_005701.1:p.Lys192Thr
CA412890958
NM_005710.2:c.575A>C