ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826132282
Gene: BBS12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
347502
ClinVar RCV Id:
RCV000669919
RCV001386881
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171478.1:p.Cys426Tyr
CA10617032
NM_001178007.2:c.1277G>A