ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139745065
Gene: CNGA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366199.1:p.Ser348Arg
CA2911145
NM_001379270.1:c.1044C>G
CA2911146
NM_001379270.1:c.1042A>C
CA356827357
NM_001379270.1:c.1044C>A