ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA100964
Gene: BBS5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6162
ClinVar RCV Id:
RCV000006537
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689597.1:p.Thr183Ala
CA253785
NM_152384.3:c.547A>G