ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826052387
Gene: PQBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161461.1:p.Arg242Trp
CA412891754
NM_001167989.2:c.724C>T