ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825380054
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000201271
RCV000487793
RCV001857739
RCV002470811
RCV003235124
ClinVar Variation:
217360
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Ala157Val
CA279171
NM_001037343.2:c.470C>T