ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825380330
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1479406
ClinVar RCV Id:
RCV001990942
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Asp556Gly
CA412362191
NM_001037343.2:c.1667A>G