ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826132351
Gene: BBS12
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171478.1:p.Val500Ala
CA3069461
NM_001178007.2:c.1499T>C