ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828818426
Gene: CNGA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2167046
ClinVar RCV Id:
RCV003080388
RCV003092020
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366199.1:p.Ile673Thr
CA2910973
NM_001379270.1:c.2018T>C