ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580256896
Gene: BPI
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001716.3:p.Phe383Val
CA408877481
NM_001725.3:c.1147T>G