ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827422309
Gene: BBS9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334968.1:p.Ala336Val
CA200975
NM_001348039.3:c.1007C>T