ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825363290
Gene: PQBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
983218
ClinVar RCV Id:
RCV001263095
RCV002537647
RCV002541603
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027553.1:p.Arg180His
CA329097222
NM_001032381.2:c.539G>A