ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827495040
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349381
ClinVar RCV Id:
RCV000294425
RCV000349329
RCV001240311
RCV003168538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337083.1:p.Arg252Gln
CA2794585
NM_001350154.3:c.755G>A