ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580165103
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2015244
ClinVar RCV Id:
RCV002846256
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Leu509Gln
CA355916020
NM_001145291.2:c.1526T>A