ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580434333
Gene: CNGB3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2143375
ClinVar RCV Id:
RCV003076691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061971.3:p.Glu393Lys
CA4800141
NM_019098.5:c.1177G>A