ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805346
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_789794.1:p.Gly42Glu
CA358045190
NM_176824.3:c.125G>A