ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA171643
Gene: CDKL5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Met1003Thr
CA171642
NM_003159.2:c.3008T>C