ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109570
Gene: BBS12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171478.1:p.Arg525His
CA348258
NM_001178007.2:c.1574G>A