ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480568
Gene: CNGB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
320078
ClinVar RCV Id:
RCV000288196
RCV001458432
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288.3:p.Leu818Ile
CA8083004
NM_001297.5:c.2452C>A