ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066116
Gene: PDE6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
349310
ClinVar RCV Id:
RCV000350373
RCV000406027
RCV000958533
RCV003888830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Glu166Lys
CA2793981
NM_001145291.2:c.496G>A