ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829340041
Gene: BPI
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001716.3:p.Ala192Val
CA9852180
NM_001725.3:c.575C>T