ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825380546
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2945233
ClinVar RCV Id:
RCV003800887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Gln902Lys
CA327009072
NM_001037343.2:c.2704C>A