ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827186995
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421693
ClinVar RCV Id:
RCV000482464
RCV002526606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310218.1:p.Asn5Asp
CA10360169
NM_001323289.2:c.13A>G