ClinGen Allele Registry
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Canonical Allele Identifier:
PA149564
Gene: BBS12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689831.2:p.Ile39Thr
CA149562
NM_152618.3:c.116T>C