ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573076079
Gene: CNGA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
348844
ClinVar RCV Id:
RCV000348268
RCV003114506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366199.1:p.Glu117Lys
CA2911307
NM_001379270.1:c.349G>A