ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645408479
Gene: BBS7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
347489
ClinVar RCV Id:
RCV000340451
RCV001453261
RCV003922526
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_789794.1:p.Ile4Thr
CA3064641
NM_176824.3:c.11T>C