ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827426262
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194995
ClinVar RCV Id:
RCV000175493
RCV001087341
RCV003150969
RCV003907570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334975.1:p.Thr580Asn
CA241249
NM_001348046.3:c.1739C>A