ClinGen Allele Registry
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Canonical Allele Identifier:
PA915982352
Gene: CDKL5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000999334
ClinVar Variation:
810516
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Asp135Asn
CA412350441
NM_003159.2:c.403G>A