ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580237225
Gene: CNGA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1999294
ClinVar RCV Id:
RCV002797097
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362315.1:p.Lys476Asn
CA2911081
NM_001375386.1:c.1428G>T
CA2911082
NM_001375386.1:c.1428G>C