ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139700787
Gene: CDKL5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001047599
ClinVar Variation:
844687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Gly20Ser
CA412489608
NM_003159.2:c.58G>A