ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825380629
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000145540
RCV002055867
RCV004532636
ClinVar Variation:
156695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032420.1:p.Met1003Thr
CA171642
NM_001037343.2:c.3008T>C