Canonical Allele Identifier: PA202505
Gene: CNGB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 196674
ClinVar RCV Id: RCV000177529 RCV000761936 RCV000989610 RCV002517713 RCV003937605
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001288.3:p.Gly1039Arg
CA202504
NM_001297.5:c.3115G>A
CA396066798
NM_001297.5:c.3115G>C