ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826052426
Gene: PQBP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001161462.1:p.Ala81Val
CA412888994
NM_001167990.2:c.242C>T