×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580434241
Gene: CNGB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2127289
ClinVar RCV Id:
RCV003055425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061971.3:p.Leu53Pro
CA371456747
NM_019098.5:c.158T>C