ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA171649
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143826
ClinVar RCV Id:
RCV000145543
RCV001090792
RCV001507046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Asp193Gly
CA171648
NM_003159.2:c.578A>G