Canonical Allele Identifier: PA294769
Gene: CDKL5 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003150.1:p.Gln913His
CA294768
NM_003159.2:c.2739G>C
CA412372427
NM_003159.2:c.2739G>T