Canonical Allele Identifier: PA645480578
Gene: CNGB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 320070
ClinVar RCV Id: RCV000272670 RCV000755934
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001288.3:p.Asp951Glu
CA8082799
NM_001297.5:c.2853C>A
CA396055902
NM_001297.5:c.2853C>G