ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830281919
Gene: PQBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_652766.1:p.Pro149Arg
CA412891769
NM_144495.3:c.446C>G