ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092184
Gene: BBS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078925.3:p.Leu518Pro
CA256230
NM_024649.5:c.1553T>C