ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658737719
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000585875
RCV003767322
ClinVar Variation:
495246
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Asp206Tyr
CA412353277
NM_003159.2:c.616G>T