ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825379907
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421693
ClinVar RCV Id:
RCV000482464
RCV002526606
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Asn5Asp
CA10360169
NM_001037343.2:c.13A>G