ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA224185
Gene: BBS5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96498
ClinVar RCV Id:
RCV000249419
RCV001081706
RCV000766388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689597.1:p.Asp195Gly
CA224184
NM_152384.3:c.584A>G