ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA239399
Gene: BBS7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_789794.1:p.Arg346Gln
CA239398
NM_176824.3:c.1037G>A