ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580434331
Gene: CNGB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2174617
ClinVar RCV Id:
RCV002598944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061971.3:p.Gly389Glu
CA371446719
NM_019098.5:c.1166G>A