ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645380247
Gene: BPI
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001716.2:p.Glu216Lys
CA9852236
NM_001725.2:c.646G>A