ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA109570
Gene: BBS12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
220303
ClinVar RCV Id:
RCV000203973
RCV000499807
RCV000668722
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171478.1:p.Arg525His
CA348258
NM_001178007.2:c.1574G>A