ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827423662
Gene: BBS9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334970.1:p.Glu753Val
CA4214639
NM_001348041.4:c.2258A>T