ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104496
Gene: CNGB3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005532
RCV001243215
ClinVar Variation:
5222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061971.3:p.Ser435Phe
CA340371
NM_019098.5:c.1304C>T