Canonical Allele Identifier: PA2580434486
Gene: CNGB3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2001409
ClinVar RCV Id: RCV002815412

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_061971.3:p.Asp718Glu
CA371446558
NM_019098.5:c.2154T>G
CA371446559
NM_019098.5:c.2154T>A