ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA338788
Gene: BBS12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
215543
ClinVar RCV Id:
RCV000199683
RCV001144904
RCV001818474
RCV003884395
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689831.2:p.Gly119Ser
CA338786
NM_152618.3:c.355G>A