ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827495842
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217798
ClinVar RCV Id:
RCV000201856
RCV000505045
RCV001075447
RCV001853246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337084.1:p.Arg175Cys
CA277821
NM_001350155.3:c.523C>T