ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240055
Gene: CNGB1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194195
ClinVar RCV Id:
RCV000320799
RCV000723993
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288.3:p.Ser293Asn
CA240054
NM_001297.5:c.878G>A