ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829744339
Gene: BBS9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055266.2:p.Ser748Phe
CA242114
NM_014451.4:c.2243C>T