ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA338787
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_001171478.1:p.Gly119Ser
CA338786
NM_001178007.2:c.355G>A