ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109163
Gene: PDE6A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000431.2:p.Gln569Lys
CA234508
NM_000440.3:c.1705C>A