ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573313063
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1427492
ClinVar RCV Id:
RCV001933731
RCV003395293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_940820.1:p.Thr59Lys
CA367190349
NM_198428.3:c.176C>A