ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826052390
Gene: PQBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235848
ClinVar RCV Id:
RCV000224749
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161461.1:p.Pro243Leu
CA10581463
NM_001167989.2:c.728C>T