ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825380250
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2099556
ClinVar RCV Id:
RCV003023062
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Thr431Ala
CA412360297
NM_001037343.2:c.1291A>G