ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645510513
Gene: PDE6B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000274.2:p.Leu516Pro
CA355916145
NM_000283.3:c.1547T>C