ClinGen Allele Registry
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Canonical Allele Identifier:
PA645375056
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434664
ClinVar RCV Id:
RCV000502210
RCV000793868
RCV000831115
RCV003159618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Leu522Val
CA10360394
NM_003159.2:c.1564T>G