ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827424217
Gene: BBS9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334971.1:p.Ser743Phe
CA242114
NM_001348042.3:c.2228C>T