ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645494828
Gene: PDE6B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000274.2:p.Thr57Met
CA2793860
NM_000283.3:c.170C>T