ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA294763
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1701032
ClinVar RCV Id:
RCV002275896
RCV002300674
RCV002466282
RCV003774883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Pro895Leu
CA294762
NM_003159.2:c.2684C>T