ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100955
Gene: BCO1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_059125.2:p.Thr170Met
CA117066
NM_017429.3:c.509C>T