ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827495511
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349399
ClinVar RCV Id:
RCV000283346
RCV000338358
RCV000591409
RCV004021968
RCV004545766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337083.1:p.Asn549Ser
CA2795114
NM_001350154.3:c.1646A>G