ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645480490
Gene: CNGB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
320091
ClinVar RCV Id:
RCV000328036
RCV000597493
RCV001075314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288.3:p.Pro544Leu
CA8083377
NM_001297.5:c.1631C>T