ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093541
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11502
ClinVar RCV Id:
RCV000012257
RCV000133317
RCV000699210
RCV001507073
RCV001564884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Ala40Val
CA121521
NM_001037343.2:c.119C>T