Canonical Allele Identifier: PA645480533
Gene: CNGB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 320089
ClinVar RCV Id: RCV000334121 RCV002061206
ClinVar Variation Id: 1382506
ClinVar RCV Id: RCV001922222
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001288.3:p.Asp590Glu
CA8083305
NM_001297.5:c.1770C>G
CA396066259
NM_001297.5:c.1770C>A