ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495610
Gene: PDE6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
352005
ClinVar RCV Id:
RCV000353155
RCV002470845
RCV001487723
RCV003389470
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000431.2:p.Arg100Gln
CA3505085
NM_000440.3:c.299G>A