ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499263417
Gene: CDKL5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Val73Met
CA412348681
NM_003159.2:c.217G>A