ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825363642
Gene: PQBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197261
ClinVar RCV Id:
RCV000178251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027555.1:p.Pro188Leu
CA245296
NM_001032383.2:c.563C>T