ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2742019680
Gene: BBS7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2634347
ClinVar RCV Id:
RCV003392764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_789794.1:p.Ile221Phe
CA3064438
NM_176824.3:c.661A>T