ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139749113
Gene: BBS7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_789794.1:p.Val564Ala
CA358056183
NM_176824.3:c.1691T>C