ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826708914
Gene: CNGB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
320080
ClinVar RCV Id:
RCV000405494
RCV001000732
RCV001451609
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273059.1:p.Leu694Phe
CA8083178
NM_001286130.2:c.2080C>T