ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573169862
Gene: PDE6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1346653
ClinVar RCV Id:
RCV002030124
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000431.2:p.Gly552Cys
CA361695189
NM_000440.3:c.1654G>T