ClinGen Allele Registry
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Canonical Allele Identifier:
PA171615
Gene: CDKL5
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003150.1:p.Arg559Ter
NM_003159.2:c.1675C>T