Canonical Allele Identifier: PA2828325861
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143487
ClinVar RCV Id: RCV000133018 RCV003314564
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356320.1:p.Ser393_Ter394insArgLeuTyrThrGluArgIleAlaLysGlnThrAsnLysAsnLysGlySerCysCysLeuPheSerLeuTrpValGlyLeu
CA232948
NM_001369391.2:c.1180T>C
CA415162673
NM_001369391.2:c.1180T>A