ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092325
Gene: BBS10
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000169317
RCV001244659
RCV003390883
ClinVar Variation:
188943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078961.3:p.Leu414Ser
CA274166
NM_024685.4:c.1241T>C