Canonical Allele Identifier: PA645480333
Gene: CNGB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 320112
ClinVar RCV Id: RCV000309330 RCV001000923 RCV001430950 RCV002522881 RCV003910216
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001288.3:p.Ala78Thr
CA8083935
NM_001297.5:c.232G>A