ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645374982
Gene: CDKL5
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003150.1:p.Gln336Ter
NM_003159.2:c.1006C>T