ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827187113
Gene: CDKL5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310218.1:p.His133Tyr
CA412350411
NM_001323289.2:c.397C>T