Canonical Allele Identifier: PA2825053790
Gene: CNGA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2087458
ClinVar RCV Id: RCV003017856
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000078.3:p.Ser544Arg
CA356824798
NM_000087.5:c.1632C>G
CA356824800
NM_000087.5:c.1632C>A
CA356824806
NM_000087.5:c.1630A>C