ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA256726
Gene: PDE6A
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000431.2:p.Tyr583Ter
NM_000440.3:c.1749C>A
NM_000440.3:c.1749C>G