ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA179795
Gene: BBS5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
100605
ClinVar RCV Id:
RCV000087001
RCV000152843
RCV000504860
RCV001257073
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689597.1:p.Asn184Ser
CA179794
NM_152384.3:c.551A>G