ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375009
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
423898
ClinVar RCV Id:
RCV000481169
RCV000686829
RCV001507072
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Lys412Glu
CA10360368
NM_003159.2:c.1234A>G