ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499263407
Gene: CDKL5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1058049
ClinVar RCV Id:
RCV001367139
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003150.1:p.Ala637Gly
CA10360427
NM_003159.2:c.1910C>G