ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828816862
Gene: PDE6B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366175.1:p.Arg323His
CA2794685
NM_001379246.1:c.968G>A