ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066107
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193074
ClinVar RCV Id:
RCV000173098
RCV000337389
RCV000398223
RCV001518969
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Cys44Trp
CA200297
NM_001145291.2:c.132C>G