ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658673916
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
464817
ClinVar RCV Id:
RCV000532113
RCV002314982
RCV003448321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Thr928Met
CA327012012
NM_003159.2:c.2783C>T