ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826708674
Gene: CNGB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
209979
ClinVar RCV Id:
RCV000191921
RCV000490531
RCV001119868
RCV001489289
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273059.1:p.Pro524Arg
CA358282
NM_001286130.2:c.1571C>G