Canonical Allele Identifier: PA2825380348
Gene: CDKL5 HGNC NCBI

Linked Data

ClinVar Variation Id: 464810
ClinVar RCV Id: RCV000547851
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001032420.1:p.Met577Ile
CA10360412
NM_001037343.2:c.1731G>T
CA412362468
NM_001037343.2:c.1731G>A
CA412362469
NM_001037343.2:c.1731G>C