ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829888518
Gene: BBS7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522666
ClinVar RCV Id:
RCV000625806
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060660.2:p.Gly42Glu
CA358045190
NM_018190.4:c.125G>A