ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829888885
Gene: BBS7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060660.2:p.Val564Ala
CA358056183
NM_018190.4:c.1691T>C