ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827496318
Gene: PDE6B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337084.1:p.Trp422Arg
CA256723
NM_001350155.3:c.1264T>A
CA2795056
NM_001350155.3:c.1264T>C