ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA265995
Gene: BBS5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68066
ClinVar RCV Id:
RCV000058870
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689597.1:p.Arg138His
CA265994
NM_152384.3:c.413G>A