ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480568
Gene: CNGB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288.3:p.Leu818Ile
CA8083004
NM_001297.5:c.2452C>A