ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645496628
Gene: BBS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114091.3:p.Arg632Cys
CA8065597
NM_031885.4:c.1894C>T