ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573309317
Gene: BBS7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_789794.1:p.Lys692Glu
CA358053593
NM_176824.3:c.2074A>G