ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826709501
Gene: CNGB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
320057
ClinVar RCV Id:
RCV000307175
RCV001000412
RCV001519711
RCV001699364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273059.1:p.Ser1189Cys
CA8082497
NM_001286130.2:c.3566C>G