ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573182329
Gene: PDE6B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138763.2:p.Glu415Lys
CA2794399
NM_001145291.2:c.1243G>A