ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827424217
Gene: BBS9
HGNC
NCBI
Linked Data
ClinVar Variation Id:
195632
ClinVar RCV Id:
RCV000243461
RCV000723782
RCV001085388
RCV001165277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334971.1:p.Ser743Phe
CA242114
NM_001348042.3:c.2228C>T