ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828817236
Gene: PDE6B
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366176.1:p.Leu248Pro
CA2794577
NM_001379247.1:c.743T>C