ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826708993
Gene: CNGB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
437972
ClinVar RCV Id:
RCV000504924
RCV002524402
RCV003989545
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273059.1:p.Arg756His
CA8083082
NM_001286130.2:c.2267G>A