ClinGen Allele Registry
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Canonical Allele Identifier:
PA3057538899
Gene: CDKL5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
3874394
ClinVar RCV:
RCV005210314
ClinVar Variation:
3748474
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Arg890Trp
CA412367828
NM_003159.2:c.2668C>T