ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915982178
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
659752
ClinVar RCV Id:
RCV000816804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Val18Asp
CA412489598
NM_003159.2:c.53T>A