ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827495871
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2203491
ClinVar RCV Id:
RCV002651783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337084.1:p.Gly191Asp
CA355917197
NM_001350155.3:c.572G>A