ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826708407
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_001273059.1:p.Ser287Asn
CA240054
NM_001286130.2:c.860G>A