ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573066114
Gene: PDE6B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Glu129Lys
CA2793926
NM_001145291.2:c.385G>A