ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645480550
Gene: CNGB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
320080
ClinVar RCV Id:
RCV000405494
RCV001000732
RCV001451609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288.3:p.Leu700Phe
CA8083178
NM_001297.5:c.2098C>T