ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827187461
Gene: CDKL5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310218.1:p.Thr599Ala
CA16621280
NM_001323289.2:c.1795A>G