ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915982638
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
661864
ClinVar RCV Id:
RCV000819379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Arg534Gly
CA10360397
NM_003159.2:c.1600A>G