Canonical Allele Identifier: PA270370
Gene: MECP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 143549
ClinVar RCV Id: RCV000133082
ClinVar Variation Id: 143550

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001104262.1:p.Leu136Phe
CA270369
NM_001110792.2:c.408G>C
CA270371
NM_001110792.2:c.408G>T