ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066152
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349312
ClinVar RCV Id:
RCV000282880
RCV000379626
RCV001340998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Leu228Ile
CA2794053
NM_001145291.2:c.682C>A