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Canonical Allele Identifier: Get Identifier
Gene: CDKL5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000485184.1:p.[Asp618_Lys619del;Arg621_Asp626delinsGlnSerGluSerGln;Ser628del;Ser630_Ile631del;Gln633_Ala637delinsTrpLysLeuGluHis;Asn640_Leu645delinsArgAspGly;Pro647del]
CA916083844
ENST00000463994.4:c.1852_1853insT