ClinGen Allele Registry
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Canonical Allele Identifier:
PA3082803987
Gene: BBS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114091.4:p.Ser70Ile
CA395985986
NM_031885.5:c.209G>T