ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139696083
Gene: CNGB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288.3:p.Arg765Leu
CA396062747
NM_001297.5:c.2294G>T