ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828818322
Gene: CNGA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366199.1:p.Ser316Phe
CA126990
NM_001379270.1:c.947C>T