ClinGen Allele Registry
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Canonical Allele Identifier:
PA121524
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000012258
RCV000080068
RCV000169913
RCV001385703
RCV001507029
ClinVar Variation:
11503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Ile72Thr
CA121523
NM_003159.2:c.215T>C