ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499239897
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_001138763.2:p.Trp807Arg
CA256723
NM_001145291.2:c.2419T>A
CA2795056
NM_001145291.2:c.2419T>C