ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA209186
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210646
ClinVar RCV Id:
RCV000194778
RCV000990489
RCV001507064
RCV001519910
RCV001545727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Val966Ile
CA209185
NM_003159.2:c.2896G>A