ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825363513
Gene: PQBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027554.1:p.Gly249Glu
CA16043278
NM_001032382.2:c.746G>A