ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495666
Gene: PDE6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
351983
ClinVar RCV Id:
RCV000266622
RCV000927531
RCV003888836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000431.2:p.Arg652Cys
CA3504455
NM_000440.3:c.1954C>T