ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741901468
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2927189
ClinVar RCV Id:
RCV003781379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Ile6Val
CA412489510
NM_003159.2:c.16A>G