Canonical Allele Identifier: PA645480980
Gene: CNGB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 320057
ClinVar RCV Id: RCV000307175 RCV001000412 RCV001519711 RCV001699364
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001288.3:p.Ser1195Cys
CA8082497
NM_001297.5:c.3584C>G