ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294748
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156681
ClinVar RCV Id:
RCV000144826
RCV002515945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Val351Ile
CA294747
NM_003159.2:c.1051G>A