ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573291998
Gene: BBS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114091.4:p.Ile702Val
CA8065522
NM_031885.5:c.2104A>G