ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827187335
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
569644
ClinVar RCV Id:
RCV001417450
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310218.1:p.Asn400His
CA326987740
NM_001323289.2:c.1198A>C