ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828816816
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1492572
ClinVar RCV Id:
RCV001981055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366175.1:p.Ile275Val
CA355916882
NM_001379246.1:c.823A>G