ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829744306
Gene: BBS9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055266.2:p.Glu713Val
CA4214639
NM_014451.4:c.2138A>T