Canonical Allele Identifier: PA2825053554
Gene: CNGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16932
ClinVar RCV Id: RCV000018440 RCV000778730 RCV001073687 RCV000787817 RCV000787818 RCV001059719 RCV001197999 RCV002504802
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000078.3:p.Ser316Phe
CA126990
NM_000087.5:c.947C>T