ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829888656
Gene: BBS7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522733
ClinVar RCV Id:
RCV000625890
RCV001567842
RCV001584454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060660.2:p.Gly240Asp
CA358064762
NM_018190.4:c.719G>A