ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375021
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
434662
ClinVar RCV Id:
RCV000504427
RCV001507063
RCV002524164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Lys432_Tyr433delinsAsn
CA645373290
NM_003159.2:c.1296_1298del