ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826708804
Gene: CNGB1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273059.1:p.Glu618Gln
CA8083252
NM_001286130.2:c.1852G>C