ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093674
Gene: CDKL5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Val718Met
CA199279
NM_001037343.2:c.2152G>A