ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828817035
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13109
ClinVar RCV Id:
RCV000013988
RCV001257886
ClinVar Variation Id:
1068671
ClinVar RCV Id:
RCV001380304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366175.1:p.Trp528Arg
CA256723
NM_001379246.1:c.1582T>A
CA2795056
NM_001379246.1:c.1582T>C