ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825380017
Gene: CDKL5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000489913
ClinVar Variation:
427062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Ile131Met
CA412350393
NM_001037343.2:c.393T>G