ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495628
Gene: PDE6A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285044
ClinVar RCV Id:
RCV000261042
RCV000725573
RCV000765822
RCV003888675
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000431.2:p.Ala262Thr
CA3504944
NM_000440.3:c.784G>A