ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066108
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349288
ClinVar RCV Id:
RCV000298325
RCV000341531
RCV001320505
RCV003888829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Asp45Asn
CA2793852
NM_001145291.2:c.133G>A