ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495619
Gene: PDE6A
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000431.2:p.His161Asp
CA3505032
NM_000440.3:c.481C>G