ClinGen Allele Registry
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Canonical Allele Identifier:
PA170439
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143770
ClinVar RCV Id:
RCV000133316
RCV000479280
RCV000764869
RCV001507054
RCV003993824
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Asn399Thr
CA170438
NM_003159.2:c.1196A>C