ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139692672
Gene: PDE6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
853050
ClinVar RCV Id:
RCV001057788
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000431.2:p.Lys551Glu
CA129067137
NM_000440.3:c.1651A>G