ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066164
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13106
ClinVar RCV Id:
RCV000013985
RCV000132576
RCV001851841
RCV003887867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.His557Tyr
CA256720
NM_001145291.2:c.1669C>T