ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829626371
Gene: PQBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005701.1:p.Leu48Val
CA412888267
NM_005710.2:c.142C>G