ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580551941
Gene: BPTF
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_872579.2:p.Asp185dup
CA8725005
NM_182641.4:c.554_556dup