ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829888557
Gene: BBS7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166739
ClinVar RCV Id:
RCV000152846
RCV000283074
RCV001094847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060660.2:p.Thr94Ser
CA233523
NM_018190.4:c.280A>T