ClinGen Allele Registry
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Canonical Allele Identifier:
PA109579
Gene: BBS12
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000493625
RCV000669934
RCV001075674
RCV001089798
RCV002518825
ClinVar Variation:
281596
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171478.1:p.Arg674Cys
CA3069551
NM_001178007.2:c.2020C>T