ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827495067
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1466663
ClinVar RCV Id:
RCV001966130
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337083.1:p.Arg273Trp
CA355916870
NM_001350154.3:c.817C>T