ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826708670
Gene: CNGB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281324
ClinVar RCV Id:
RCV000285588
RCV000340906
RCV001521801
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273059.1:p.Ala521Val
CA8083387
NM_001286130.2:c.1562C>T