ClinGen Allele Registry
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Canonical Allele Identifier:
PA130126
Gene: PDE6H
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_006196.1:p.Ser12Ter
NM_006205.3:c.35C>A
NM_006205.3:c.35C>G