ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580237242
Gene: CNGA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362315.1:p.Ser571Leu
CA356824329
NM_001375386.1:c.1712C>T