ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573228041
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1465114
ClinVar RCV Id:
RCV001957070
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Val192Met
CA326985315
NM_003159.2:c.574G>A