ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510544
Gene: PDE6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
437982
ClinVar RCV Id:
RCV000505062
RCV001075345
RCV001229513
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000431.2:p.Arg544Trp
CA3504607
NM_000440.3:c.1630C>T