ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375273
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420737
ClinVar RCV Id:
RCV000487199
RCV003766683
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Pro961Ala
CA16621287
NM_003159.2:c.2881C>G