ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066155
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349362
ClinVar RCV Id:
RCV000377308
RCV001376332
RCV000504695
RCV001543444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Phe247Ile
CA2794105
NM_001145291.2:c.739T>A